LOVD - Variant listings for PAX2

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+/+ - 46,XY,t(10;13)(q24.3q12.3) - - ? PAX2_00043 Translocation breakpoint believed to localize to intron 3 or 4 by Southern blot RFLP analysis de novo Narahara et al., 1997 DNA ? - - Family 80; patient 1 Renal coloboma syndrome 46,XY,t(10;13)(q24.3q12.3). Translocation breakpoint localized to intron 3 or intron 4. - - - Male Narahara et al., 1997 Bilateral optic nerve colobomas; strabismus; nystagmus Proteinuria at age 5; normal renal u/s, normal VCUG. - Atrophy of proximal and distal renal tubules; interstitial fibrosis; focal segmental glomerular sclerosis. - - - 1
+/+ 1_11 c.(-550-?_*2258+?del) chr10.hg18:g.(?_95,200,000)_(103,100,000_?)del - p.(0) PAX2_00069 Identified by aCGH. Human genome build not reported, but assumed to be hg18. de novo Benetti et al., 2007 DNA arrayCGH - - Family 79; patient 1 Renal hypoplasia 46,XX,del(10)(q23.2q24.3). Deletion encompasses 90 genes including PAX2. - - - Female Benetti et al., 2007 normal renal hypoplasia-unilateral; poor corticomedullary differentiation-unilateral; echogenic cortices hypotonia - Oligohydramnios. Poorly visualized kidneys on U/S. Delivery at 35 weeks gestation. 1m - 1
+/+ 1_11 c.(-550-?_*2258+?del) chr10.hg18:g.(99,918,944_99,938,259)_(103,731,317_103,747,745)del - p.(0) PAX2_00070 Deletion includes 44 adjacent genes. 3.79MB deletion identified by aCGH. de novo Hoefele et al., 2012 DNA arrayCGH - - Family 91; patient 1 Renal coloboma syndrome Cytogenetic deletion 3.8MB Undescended testes, unilateral cleft lip, agenesis of the corpus callosum, pes calcaneus, - - Male Hoefele et al., 2012 reduced visual acuity, hypotropia, optic nerve hypoplasia, absent optic chiasm Echogenic renal parenchyma; multicystic kidneys, bilateral renal hypoplasia; posterior urethral valves; VUR absent optic chiasm, agenesis of the corpus callosum - - 4y - 1
+/+ 1_11 c.(-550-?_*2258+?del) chr10.hg18:g.(?_102438000)_(102678000_?)del - - PAX2_00071 240kb deletion by aCGH. de novo Raca et al., 2011 DNA arrayCGH - - Family 81; Individual 1 Renal coloboma syndrome 240kb deletion by aCGH. Includes PAX2 and a portion of FAM178A gene. Bilateral hearing loss, abnormal ear helices - - Male Laimutus et al., 2012 Right optic nerve dysplasia, excavation of optic disc. Left eye normal Proteinuria age 1. Hypoplastic hyperechoic kidneys. - The renal biopsy identified ten enlarged glomeruli and signs of secondary segmental and focal glomerulosclerosis - 1 - 1
+?/+? 1 c.5A>G - - p.(Asp2Gly) PAX2_00086 - - Barua et al., 2014 DNA SEQ - - Family 117; patient 1 CAKUT Individual CKT35C in publication CAKUT - - - Barua et al., 2014 Not reported Unilateral UPJO; Bilateral VUR - - - - - 1
+/+ 1i c.43+1G>C - - Intron 1 splice donor PAX2_00044 - de novo Bower et al., 2012 DNA SEQ - - Family 1; patient 1 Renal hypoplasia - - - - - Bower et al., 2012 Normal fundus bilateral renal hypoplasia; normal renal function age 2 - - Bilateral renal hypoplasia - - 1
+/+ 2 c.58_64dup c.57_58insGTGAACC - p.(Gln22Argfs*34) PAX2_00094 - - - DNA SEQ-NG-I - 1 Family 130;patient 1 Renal coloboma syndrome - - - {PMID26571382:Okumura et al.,2015} - - bilateral optic nerve coloboma Normal imaging; FSGS on biopsy - FSGS - - - 1
+/+ 2 c.59del - - p.(Val20Glyfs*9) PAX2_00002 - de novo, somatic mosaicism Chung et al., 2001 DNA SEQ - - Family 2; patient 1 Renal coloboma syndrome De novo with normal Allele specific oligonucleotide test in parents. Umbilical hernia; inguinal hernia - - Female Chung et al., 2001 Optic nerve coloboma-bilateral Renal hypoplasia-bilateral; renal tubular acidosis - - - 5y 7y 1
+/+ 2 c.68del - - p.(Leu23Profs*6) PAX2_00003 - ? (unknown) Cunliffe et al., 1998 DNA SEQ - - Family 3; patient 1 Renal coloboma syndrome Patient "985" in original published report. - - Dutch Male Cunliffe et al., 1998 Optic nerve coloboma-bilateral Cystic dysplastic kidney-unilateral; VUR grade II-III-unilateral - - - - - 1
+/+ 2 c.69del - - p.(Val26Cysfs*3) PAX2_00004 - de novo Negrisolo et al., 2010 DNA SEQ - - Family 4; patient 1 Renal coloboma syndrome De novo with normal parental sequencing. Sensorineural hearing loss-bilateral - - Female Negrisolo et al., 2010 Myopia; isotropy Renal hypodysplasia-bilateral; reflux nepropathy - - - - - 1
+?/+? 2 c.71G>A - - p.(Gly24Glu) PAX2_00005 - ? (unknown) Thomas et al., 2011 DNA SEQ - - Family 6; patient 1 Renal hypoplasia - - - - Female Thomas et al., 2011 not reported Renal hypodysplasia - - - - - 1
+?/+? 2 c.74 G>T - - p.(Gly25Val) PAX2_00045 - de novo Bower et al., 2012 DNA SEQ - - Family 7; patient 1 Renal coloboma syndrome Mother of family 7; patient 1 - - - - Bower et al., 2012 - Bilateral renal hypoplasia Optic nerve coloboma-unilateral (right) - - 23y 25y 1
+?/+? 2 c.74 G>T - - p.(Gly25Val) PAX2_00045 - de novo, in mother - DNA SEQ - - Family 7; patient 2 Renal coloboma syndrome Child of family 7; patient 1 - - - - Bower et al., 2012 excavated papilla bilateral + left colobomatous slit medullar and cortical cysts (one large and septated); CRF (creatinine 120microM) - - - - - 1
+/+ 2 c.75_76dup - - p.(Val26Glyfs*4) PAX2_00007 - de novo Amiel et al., 2000 DNA SEQ - - Family 9; patient 1 Renal coloboma syndrome Normal sequencing in mother; father unavailable for analysis. - - - - Amiel et al., 2000 Optic nerve coloboma-bilateral Renal hypoplasia-bilateral - - - - - 1
+/+ 2 c.76del - - p.(Val26Cysfs*3) PAX2_00006 - de novo, in mother Schimmenti et al., 1999 DNA SEQ - - Family 8; Patient 1 Renal coloboma syndrome Daughter of family 8; patient 2. Patient "12961" in original published report. 4th and 5th digit clinodactyly - Caucasian Female Schimmenti et al., 1999 Optic nerve coloboma-bilateral; nystagmus; esotropia Vesicoureteral reflux - - - - - 1
+/+ 2 c.76del - - p.(Val26Cysfs*3) PAX2_00006 - de novo - - - - - Family 8; patient 2 Renal coloboma syndrome Mother of family 8; patient 1. Patient "12962" in original published report. - - Caucasian Female Schimmenti et al., 1999 Bilateral optic nerve coloboma Renal cysts - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) Sanyanusin et al., 1995 DNA SEQ - - Family 31;patient 1 Renal coloboma syndrome Sibling to Family 31; patient 2. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP - - - Male Sanyanusin et al., 1995 Bilateral optic nerve colobomas Unilateral renal agenesis; renal failure - - - 7y 7y 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - - Family 31; patient 2 Renal coloboma syndrome Sibling to Family 31; patient 1. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP - - - Male Sanyanusin et al., 1995 Bilateral optic nerve coloboma Mild chronic renal failure - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 32;patient 1 Renal coloboma syndrome Inherited from affected father (Family 32; patient 2) - United States - Male Bower et al., 2012 Morning glory anomaly-bilateral renal hypoplasia-bilateral - - - 10 - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 32; patient 2 Renal coloboma syndrome Father of Family32;patient 1. Apparently de novo origin for this patient. - - - - Bower et al., 2012 Morning glory anomaly-bilateral Renal failure - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 15 Renal coloboma syndrome "patient 3" in publication - ? (unknown) Korean Male Cheong et al., 2007 Microphthalmia-unilateral; Optic nerve coloboma-unilateral Renal hypoplasia-bilateral; normal VCUG - Renal biopsy: focal segmental glomerulosclerosis; mild mesangial hypercellularity; focal effacement of podocyte foot processes; marked atrophy of tubules; interstitial fibrosis; focal arteriosclerosis. - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 16;Patient 1 Renal coloboma syndrome "Patient 4" in publication - - Korean Female Cheong et al., 2007 Optic nerve coloboma-bilateral; emmetropia Renal hypoplasia-bilateral; normal VCUG - - - - 9y 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 17;Patient 1 Renal coloboma syndrome "Patient 5" in publication Developmental delay. Brain MRI showed enlargement of extra-axial space and delayed myelinization at 4 months. - Korean Male Cheong et al., 2007 Optic nerve coloboma-bilateral; nystagmus; esotropia-bilateral; chorioretinal degeneration Renal hypoplasia-bilateral; echogenic kidneys-bilateral; normal VCUG - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, in patient (maternal allele) - - - - - Family 18; Patient 1 Renal coloboma syndrome Sibling of Family 18; patient 1. Maternal germline mosaicism. "Patient 1" in publication - - Korean - Cheong et al., 2007 Optic nerve coloboma-bilateral; esodeviation; retinal edema; chorioretinal degeneration; Macular telangiectases-bilateral renal hypoplasia-bilateral; renal cyst-unilateral; normal VCUG - - - 13y 15y 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, in patient (maternal allele) - - - - - Family 18; patient 2 Renal coloboma syndrome Sibling to Family 18; patient 1. Maternal germline mosaicism. "Patient 2" in publication - - Korean Male Cheong et al., 2007 Optic nerve coloboma-bilateral; nystagmus Renal hypoplasia-bilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 19; patient 1 Renal coloboma syndrome Patient "RA" in publication. - - - - Amiel et al., 2000 microphthalmia-bilateral; dysplastic optic nerve-unilateral; retinal degeneration Renal hypoplasia-bilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, in patient (paternal allele) - - - - - Family 20 ;Patient 1 Renal coloboma syndrome Patient "PE" in publication. - - - - Amiel et al., 2000 retinal coloboma-bilateral Renal hypoplasia-bilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, in patient (paternal allele) - - - - - Family 21;Patient 1 Renal coloboma syndrome Sibling to Family 21;patients 2 &3. Paternal germline mosaicism. Patient "AR-II1" in publication. - - - - Amiel et al, 2000 Morning glory syndrome Renal hypoplasia-bilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, in patient (paternal allele) - - - - - Family 21; Patient 2 Renal coloboma syndrome Sibling to Family 21; Patients 1&3. Paternal germline mosaicism. Patient "AR-II2" in publication. - - - - Amiel et al., 2000 Papillary dysplasia-bilateral Cystic renal hypoplasia-unilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, in patient (paternal allele) - - - - - Family 21;Patient 3 Renal coloboma syndrome Sibling to family 21; patients 1 &2. Paternal germline mosaicism. Patient "AR-II3" in publication. - - - - Amiel et al., 2000 Optic nerve coloboma-bilateral Cystic renal hypoplasia-unilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 22;Patient 1 Renal coloboma syndrome Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient "GDA3" in publication." - - - Female Weber et al., 2006 Optic nerve coloboma-unilateral; hypoplastic optic disc-unilateral Renal dysplasia-bilateral; renal cyst - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 22;Patient 2 Renal colobma syndrome Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient "GDA4" in publication. Hearing impairment - - Female Weber et al., 2006 Optic disc dysplasia Renal dysplasia-bilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - - Family 23;Patient 1 Renal coloboma syndrome Patient "PRA9" in original publication. - - - Male Weber et al., 2006 Optic nerve coloboma; optic disc dysplasia Renal hypoplasia-bilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 24;patient 1 Renal coloboma syndrome Patient "PAR16" in original publication. De novo with normal parental testing. Hearing impairment - - Female Weber et al., 2006 Optic nerve coloboma Multicystic dysplastic kidneys; PUJ obstruction - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 25;patient 1 Renal coloboma syndrome "Patient 2" in original published report. - - - - Salomon et al., 2001 Papillary dysplasia; thickening of papilla Renal hypoplasia-bilateral - Oligomeganephronia - 5.5y - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, germline mosaicism - - - - - Family 26;patient 2 Renal coloboma syndrome "Patient 3" in original published report. de novo with normal parental sequencing. - - - - Salomon et al., 2001 Optic nerve coloboma-bilateral Renal hypoplasia-bilateral - Oligomeganephronia - 7y - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - - Family 27;patient 1 Renal coloboma syndrome Mother of family 27;patient 2. Unknown origin. Patient "656" in original report. soft skin - - Female Schimmenti et al., 1997 Optic disc hyopoplasia-bilateral; bilateral opacities of anterior and posterior lens capsule. Renal hypoplasia-bilateral - - - 24y - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 27; patient 2 Renal coloboma syndrome Child of family 27;patient 1. Patient "657" in original published report. Soft skin; 46,XY karyotype - - - Schimmenti et al., 1997 Esotropia; exophthalmos; Absent optic nerve head-unilateral Renal hypoplasia-bilateral Developmental delay; microcephaly. - - - 14 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - - Family 22;patient 3 Renal hypoplasia Father of Family 22; patients 1 and 2. Did not come to clinical attention until diagnosis in daughters. Normal ophthalmological exam. - - - Male Weber et al., 2006 Normal exam Renal hypodysplasia-bilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 28; Patient 1 Renal coloboma syndrome Patient "2646" in original published report Hypoplastic superior ear helices; upslanting palpebral fissures; bulbous nose; hyperplastic gingiva. Hearing loss (unilateral). 46,XX karyotype. - - Female Schimmenti et al., 1997 Optic nerve coloboma-bilateral; amblyopia Renal hypoplasia-bilateral - Focal segmental glomerulosclerosis - - 18 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - - Family 29; patient 1 Renal coloboma syndrome Patient "8691" in original report. Soft skin; hyperelasticity; gingival hyperplasia. - United States (African American) Female Schimmenti et al., 1999 Optic nerve coloboma-bilateral; Abnormal retinal pigment epithelium; Renal hypoplasia-bilateral; Echogenic kidneys; Poor corticomedullary differentiation Chiari malformation type 1 - Oligohydramnios; breech presentation. - 3 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, germline and somatic mosaicism - - - - - Family 10; Patient 1 Renal coloboma syndrome Sibling to Family 10; patient 2. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. - - - Female Bower et al., 2012 Morning glory anomaly-bilateral Renal insufficiency, renal hypoplasia - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo, germline and somatic mosaicism - - - - - Family 10; Patient 2 Renal coloboma syndrome Sibling to Family 10; patient 1. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. - - - Male Bower et al., 2012 Bilateral morning glory anomaly none noted - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 11; Patient 1 Renal coloboma syndrome de novo with normal parental sequencing. Asymmetric growth retardation. - - Male Bower et al., 2012 Optic nerve coloboma (left); Morning glory optic disc (right); Proptosis due to cystic coloboma (left) Bilateral cystic kidneys; bilateral renal dysplasia Axial and peripheral hypotonia; global developmental delay; - Oligohydramnios; polycystic kidneys; renal dysplasia noted on 2nd trimester ultrasound. Delivery at 35 weeks. - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 12; Patient 1 Renal coloboma syndrome de novo with normal parental sequencing. - - - Male Bower et al., 2012 Enlarged optic disc-bilateral; Abnormal retinal pigmentation Multicystic dysplastic kidneys-unilateral; UPJ obstruction-unilateral - - 18 week ultrasound- right multicystic dysplastic kidney; left hydronephrosis. - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 13; patient 1 Renal coloboma syndrome De novo with normal parental sequencing. - - - Male Bower et al., 2012 Optic nerve coloboma-bilateral Renal hypoplasia-bilateral - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - - Family 14; patient 1 Renal coloboma syndrome - Pulmonary hypoplasia secondary to Potter sequence. - Japanese - Tagami et al., 2010 Enlarged optic disc-unilateral; excavated optic disc-unilateral; optic nerve coloboma-bilateral Renal hypoplasia-bilateral - - Oligohydramnios; Potter sequence 1m - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 31; patient 3 Fetal potter sequence Offspring of Family 31; patient 2. Fetal demise. - - - Bower et al., 2012 not evaluated renal hypoplasia-bilateral - Dilated collecting duct system; dilated tubules-bilateral Anhydramnios at 18 weeks gestation. - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 31; patient 4 Renal coloboma syndrome Paternal half niece to family 31; patients 1&2. - - - Female Bower et al., 2012 not reported Bilateral renal hypoplasia - - - 19y - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - - Family 30; Patient 1 Renal coloboma syndrome Patient "X2003" in original report. cryptorchidism - Japanese Male Porteous et al., 2000 Optic nerve coloboma-bilateral; retinal detachment Renal hypoplasia-bilateral; multicystic kidneys; - - - 13y - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo - - - - - Family 33; patient 1 Renal coloboma syndrome - joint laxity; mental retardation; seizures - - Female Beby et al., 2010 Optic nerve coloboma-bilateral; Posterior lens luxation; calcified keratopathy Renal hypoplasia-bilateral; Vesicoureteral reflux - - - - - 1
+/+ 2 c.76dup - - p.(Val26Glyfs*28) PAX2_00001 - de novo - - - - - Family 5; patient 1 Renal coloboma syndrome Noted as "c.69_70insC" in original manuscript. - - - Male Thomas et al., 2011 Not reported Renal hypodysplasia - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 84; patient 1 Renal coloboma syndrome Patient IV-7 in original published report. Child of family 84; patient 2. Male sibling had severe renal hypoplasia and olighydramnios prenatally, but not tested for mutation. - - Swiss/ English Male Ford et al., 2001 Optic disc hyperplasia; optic nerve coloboma; abnormal retinal pigment; retinal staphyloma. renal hypodysplasia-bilateral; vesicoureteral reflux - - Renal hypoplasia at 18 weeks; oligohydramnios - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 84; patient 2 Renal coloboma syndrome Individual III-19 in original publication. Father of family 84; patient 1. Two pregnancies with severe oligohydramnios. Brother to family 84; patient 3. - - Swiss English Male Ford et al., 2001 Morning glory anomaly-bilateral Vesicoureteral reflux - oligonephric hypoplasia - 23y 28y 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant - - - - - Family 84; patient 3 Renal coloboma syndrome Individual III-21 in original publication. Sister to family 84; patient 2. - - Swiss English Female Ford et al., 2001 abnormal optic discs Bilateral renal hypoplasia - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - - Family 84; patient 4 Renal coloboma syndrome Individual II-3 in original publication. Father of family 84; patients 2 and 3. - - - Male Ford et al., 2001 Normal ophthalmological exam Impaired renal function with renal failure - - - 60y 62y 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - DNA SEQ - - Family 90; patient 1 Renal coloboma syndrome - - - - Male - Bilateral optic nerve colobomas Bilateral renal hypoplasia - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - DNA SEQ - - Family 92; Patient 1 Renal coloboma syndrome - Atrial septal defect; soft skin; joint hyper mobility; - - Female Gucev et al., 2009 Bilateral microphthalmos; Unilateral excavation of optic disc; unilateral morning glory anomaly; optic nerve coloboma; Right orbital retrobulbar cystic mass. unilateral multicystic dysplastic kidney; Unilateral hypoplastic kidney; Vesicoureteral reflux - - Unilateral multicystic kidney - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - de novo Yoshimura et al., 2005 DNA SEQ - - Family 93; patient 1 Renal coloboma syndrome De novo with normal parental sequencing and normal parental renal and ophthalmological exams. - Japan Japanese Female Yoshimura et al., 2005 Bilateral morning glory optic disc; bilateral optic nerve coloboma bilateral renal hypoplasia - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - DNA SEQ - - Family 96; Patient 1 Renal Hypoplasia Patient P1 in manuscript Prenatal onset renal hypoplasia - - - Madariaga 2013 Not examined Bilateral renal hypoplasia - - Anhydramnios and bilateral renal hypoplasia (<2SD) at 16 week ultrasound - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - DNA SEQ - - Family 96; Patient 2 Renal coloboma syndrome Mother of patient P1 in manuscript - - - Female Madariaga 2013 Normal Fundus Bilateral renal hypoplasia - - - 7y 7y 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant Ohtsubo et al., 2012 DNA SEQ - - Family 100; patient 1 Renal coloboma syndrome Patient 1 in published manuscript renal coloboma syndrome Japan Japanese Female Ohtsubo et al. 2012 Bilateral optic disc coloboma Proteinuria age 6; Unilateral renal hypoplasia - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant Ohtsubo et al., 2012 DNA SEQ - - Family 100; patient 2 Renal coloboma syndrome Patient 2 in published manuscript- father died after 4th renal transplant. He was not tested for familial mutation. Renal coloboma syndrome Japan japanese Female Ohtsubo et al., 2012 Optic disc coloboma; macular hypoplasia Unilateral renal hypoplasia; vesicoureteral reflux; - Glomeruli had diffuse thickening accompanied by a basket- weave formation of the GBM, which was compatible with Alport syndrome. - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant [Sato et al., 2013] DNA SEQ - - Family 102; patient 1 Renal coloboma syndrome Proband (patient III-4) in published report. Graves disease; asthma Japan Japanese Female [Sato et al., 2013] Nystagmus, strabismus, bilateral optic nerve dysplasia (morning glory anomaly) Normal renal U/S, enuresis, proteinuria at age 9 - - Oligohydramnios - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) Sato et al., 2013 DNA SEQ - - Family 102; patient 2 Renal hypoplasia Individual III-7 in published report (younger brother of proband) renal hypoplasia Japan Japanese Male Sato et al., 2013 Normal eye exam Bilateral renal hypoplasia - - Oligohydramnios - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial, autosomal dominant Sato et al., 2013 DNA SEQ - - Family 102; patient 3 Renal hypolasia Individual II-4 in the published report. Mother of proband. Renal hypoplasia, obesity, hypertension, hyperlipidemia. Japan Japanese Female Sato et al., 2013 Normal eye exam Bilateral renal hypoplasia - Non specific findings on renal biopsies age 14 and 26. Developed pregnancy-related hypertension. - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - DNA SEQ - - Family 103; patient 1 CAKUT Individual A3148-21 in published report Non-renal findings and family history not reported - European Male Hwang et al., 2013 not reported Bilateral renal hypodysplasia; bilateral renal cysts - - - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 presumed de novo- no prior family history de novo - DNA SEQ - - Family 122; patient 1 Renal coloboma syndrome Father in published report - - - Male Iwafuchi et al.,2016 bilateral optic nerve atrophy Proteinuria age 20, FSGS, slightly small kidneys with bilateral cysts -  One glomerulus was obsolescent and in another there was segmental sclerosis with hyaline deposits near the vascular pole (fig. ​(fig.1b).1b). Other glomeruli were slightly enlarged and had essentially minor changes, but in several segments a questionable increased mesangium was observed - - - 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial - DNA SEQ - 1 Family 122; patient2 Renal coloboma syndrome - - - - Male Iwafuchi et al.,2016 bilateral glaucomatous cupping proteinuria age 2 - - - 5 8 1
+/+ 2 c.76dup - - p.(Val26GlyFS*28) PAX2_00001 - familial - DNA SEQ - 1 Family 122;patient 3 Renal coloboma syndrome younger child in published report - - - Male Iwafuchi et al.,2016 bilateral optic nerve atrophy showed bilateral hypoplastic kidneys - - - - 8 1
+/+ 2 c.76dup NM_003987.3:c.69_70insG - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - DNA SEQ-NG-I - 1 Family 124;patient 1 CAKUT - - - - Male Nicolaou et al.,2016 - - Unilateral renal dyplasia - - - - 1
+/+ 2 c.76dup NM_003987.3:c.69_70insG - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - DNA SEQ-NG-I - - Family 125;patient 1 CAKUT - - - - Male Nicolaou et al.,2016 Coloboma VUS;renal dysplasia - - - - - 1
+?/+? 2 c.92_97del - - p.(Arg31_Pro32del) PAX2_00008 - ? (unknown) Weber et al., 2006 DNA SEQ - - Family 34; patient 1 Renal hypoplasia Patient "PRA1" in original published report. Hearing impairment - - - Weber et al., 2006 none reported Renal hypoplasia-bilateral; Vesico Ureteral reflux - - - - - 1
+?/+? 2 c.98T>G - - p.(Leu33Arg) PAX2_00046 - ? (unknown) Bower et al., 2012 DNA SEQ - - Family 35; patient 1 Renal coloboma syndrome no reported family history - - - - Bower et al., 2012 Bilateral optic nerve coloboma hypoplasia; vesicoureteral reflux; renal cyst - - - 5y - 1
+?/+? 2 c.115_120del - - p.(Gln39_Arg40del) PAX2_00009 - ? (unknown) Salomon et al., 2001 DNA SEQ - - Family 36; patient 1 Renal coloboma syndrome - - - - - Salomon et al., 2001 Optic nerve coloboma-bilateral Renal hypoplasias-bilateral - - - 20y - 1
+/+ 2 c.119_120del - - p.(Arg40Hisfs*13) PAX2_00092 - - - DNA SEQ-NG-I - - Family 126;patient 1 Renal coloboma syndrome Case1 in published report - - - - Okumura et al.,2015 bilateral optic nerve coloboma Hemodialysis - - - - - 1
+/+ 2 c.119_120del - - p.(Arg40Hisfs*13) PAX2_00092 - - - DNA SEQ-NG-I - - Family 126;case 2 Renal coloboma syndrome Case 2 in published report - - - Male Okumura et al.,2015 bilateral optic nerve coloboma Kidney malrotation - Glomerulomegaly - - - 1
+/+ 2 c.119_120del - - p.(Arg40Hisfs*13) PAX2_00092 - - - DNA SEQ-NG-I - - Family 126;patient 3 Renal coloboma syndrome Case 3 in published report - - - Female Okumura et al.,2015 bilateral optic nerve coloboma renal Hypoplasia/atrophy; dialysis - - - - - 1
+/+ 2 c.119_120del - - p.(Arg40Hisfs*13) PAX2_00092 - - - DNA SEQ-NG-I - - Family 126;patient 4 Renal coloboma syndrome Case 4 in published report - - - Female Okumura et al.,2015 bilateral optic nerve coloboma Kidney malrotation - - - - - 1
+/+ 2 c.119_120del - - p.(Arg40Hisfs*13) PAX2_00092 - - - DNA SEQ-NG-I - - Family 126;patient 5 Renal coloboma syndrome case 5 in published report - - - Female Okumura et al.,2015 bilateral optic nerve coloboma Hypoplasia/atrophy; dialysis - - - - - 1
+/+ 2 c.129_150del - - p.(Glu43Aspfs*33) PAX2_00010 - de novo Schimmenti et al., 1997 DNA SEQ - - Family 37; patient 1 Renal coloboma syndrome Patient "579" in original published report. 46,XY karyotype. Apparently de novo. - - Male Schimmenti et al., 1997 Optic nerve coloboma-bilateral; retinal coloboma-bilateral Renal hypoplasia-bilateral abnormal EEG with clonic seizures age 9. - - 2y - 1
+/+ 2 c.139_148del - - p.(Gln47Glyfs*33) PAX2_00011 - de novo Fletcher et al., 2005 DNA SEQ - - Family 38; patient 1 Renal coloboma syndrome Patient "II-3" in original published report. Apparently de novo origin. Mother of Family 38; patients 2&3. Hearing loss-bilateral sensorineural and conductive - - Female Fletcher et al., 2005 Optic nerve coloboma-bilateral renal hypoplasia-bilateral; medullary sponge kidney; pyelonephritis - Medullary sponge kidney - 29y - 1
+/+ 2 c.139_148del - - p.(Gln47Glyfs*33) PAX2_00011 - de novo, in mother - - - - - Family 38; patient 2 Renal coloboma syndrome Patient "III-3" in original publication. Son of Family 38; patient 1. - - - Male Fletcher et al., 2005 Optic nerve coloboma-bilateral Renal hypoplasia-bilateral; Vesicoureteral reflux-bilateral grade II-III; UPJ obstruction-unilateral - - - 14y - 1
+/+ 2 c.139_148del - - p.(Gln47Glyfs*33) PAX2_00011 - de novo, in mother - - - - - Family 38; patient 3 Renal coloboma syndrome Patient "III-4" in original publicaction. Daughter of family 38; patient 1. Mother of family 38; patients 4,5,&6. - - - Female Fletcher et al., 2005 Optic nerve coloboma-bilateral Stable chronic renal impairment; proteinuria - - - - - 1
+/+ 2 c.139_148del - - p.(Gln47Glyfs*33) PAX2_00011 - familial, autosomal dominant - - - - - Family 38; Patient 4 Renal coloboma syndrome Patient "IV-1" in original published report. Son of Family 38; patient 3. Sibling to Family 38; patients 5 and 6. - (Afghanistan) - Male Fletcher et al., 2005 Optic nerve coloboma-bilateral Renal hypoplasia-bilateral - - Bilateral renal hypoplasia. - - 1
+/+ 2 c.139_148del - - p.(Gln47Glyfs*33) PAX2_00011 - familial, autosomal dominant - - - - - Family 38; patient 5 Renal coloboma syndrome Patient "IV-2" in original publication. Twin sister to Family 38; patient 6. Daughter of family 38; patient 3. - - - Female - Optic nerve coloboma-unilateral Renal hypoplasia-bilateral; renal dysplasia-bilateral - - Bilateral renal hypoplasia. - - 1
+/+ 2 c.139_148del - - p.(Gln47Glyfs*33) PAX2_00011 - familial, autosomal dominant - - - - - Family 38; patient 6 Renal coloboma syndrome Patient "IV-3" in original report. Monozygotic twin to family 38; patient 5. Daughter of family 38; patient 3. - - - Female Fletcher et al., 2005 Optic nerve coloboma-unilateral Renal hypoplasia-unilateral; Multicystic dysplastic kidney-unilateral - - Renal hypoplasia-unilateral; Multicystic dysplastic kidney-unilateral - - 1
+?/+? 2 c.155G>A - - p.(Cys52Tyr) PAX2_00068 - de novo Iatropoulos et al., 2012 DNA SEQ - - Family 94; patient 1 Renal coloboma syndrome Twin 1 in published manuscript joint laxity, skin hyper extensibility - - Female Iatropoulos et al., 2012 Normal dilated eye exam Right multi cystic kidney; :Left hyperechogenic kidney with poor corticomedullary differentiation - - Right multi cystic kidney - - 1
+?/+? 2 c.155G>A - - p.(Cys52Tyr) PAX2_00068 - de novo Iatropoulos et al., 2012 DNA SEQ - - Family 94; patient 2 Renal coloboma syndrome Twin 2 in published manuscript normal audiogram; skin hyper extensibility; joint laxity - - - Iatropoulos et al., 2012 Left optic nerve coloboma; complete loss of vision in left eye, normal right eye hyperechoic renal pyramids at birth; Normal renal structure on ultrasound at age 20; proteinuria - - - - - 1
+?/+? 2 c.167G>A - - p.(Arg56Gln) PAX2_00081 - ? (unknown) Barua et al., 2014 DNA SEQ - - Family 112; patient 1 FSGS Individual II-2 in supplemental information pedigree. Three other affected family members reported, but not tested. FSGS - Middle East Male Barua et al., 2014 - - - - - - - 1
+?/+? 2 c.182G>A - - p.(Ser61Asn) PAX2_00064 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - - Family 86; Patient 1 Renal coloboma syndrome Daughter of Family 86; patient 2 - - - Female Bower et al., 2012 Bilateral optic nerve coloboma; unilateral retinal degeneration (right) Bilateral renal hypoplasia with renal insufficiency - - - - - 1
+?/+? 2 c.182G>A - - p.(Ser61Asn) PAX2_00064 - ? (unknown) Bower et al., 2012 DNA SEQ - - Family 86; patient 2 Renal coloboma syndrome Mother of family 86; patient 1 - - - Female Bower et al., 2012 Bilateral optic nerve coloboma Renal failure - - - - 50 1
+?/+? 2 c.182G>T - - p.(Ser61Ile) PAX2_00047 - ? (unknown) Bower et al., 2012 DNA SEQ - - Family 39; patient 1 Renal coloboma syndrome - - - - - Bower et al., 2012 Morning glory syndrome bilateral renal hypodysplasia - - - 9y - 1
+/+ 2 c.184_198del - - p.(His62_Ser66del) PAX2_00048 - ? (unknown) Bower et al., 2012 DNA SEQ - - Family 40; patient 1 Renal coloboma syndrome - - - - - Bower et al., 2012 Bilateral optic nerve coloboma bilateral renal hypodysplasia. Cortical cysts in one kidney.Bilateral reflux - - Renal hypoplasia 1m - 1
+?/+? 2 c.187G>A - - p.(Gly63Ser) PAX2_00093 - - Okumura et al.,2015 DNA SEQ-NG-I - 1 Family 129;patient 1 Renal coloboma syndrome case 9 in published report - - - - Okumura et al.,2015 bilateral optic nerve coloboma Hypoplasia/atrophy - Mes PGN - - - 1
+?/+? 2 c.206T>C - - p.(Leu69Pro) PAX2_00031 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - - Family 41; patient 1 Renal coloboma syndrome Child of family 41; patient 2. Grandchild of family 41; patient 3 - - - - Bower et al., 2012 Optic nerve coloboma-bilateral Renal hypoplasia-bilateral - - - - - 1
+?/+? 2 c.206T>C - - p.(Leu69Pro) PAX2_00031 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - - Family 41; patient 2 Renal coloboma syndrome Daughter of family 41; patient 3. Mother of family 31; patient 1. Short stature - - Female Bower et al., 2012 Optic nerve coloboma-bilateral Renal hypoplasia-bilateral; Echogenic cortices - Thin cortex - - - 1
+?/+? 2 c.206T>C - - p.(Leu69Pro) PAX2_00031 - de novo Bower et al., 2012 DNA SEQ - - Family 41; patient 3 Renal coloboma syndrome Grandmother of family 41; patient 1. Mother of family 41; patient 2 - - - Female Bower et al., 2012 Optic nerve coloboma-unilateral Renal failure - - - - - 1
+?/+? 2 c.211A>G - - p.(Arg71Gly) PAX2_00075 - - Hwang et al., 2013 DNA SEQ - - Family 104; patient 1 CAKUT individual A2334-21 in published report Other findings and family history not reported - Caucasian Female Hwang et al., 2013 ? bilateral renal hypodysplasia; bilateral renal cysts ganglioneuroblastoma - - - - 1
+?/+? 2 c.212G>C - - p.(Arg71Thr) PAX2_00056 - de novo, in mother Higashide et al., 2005 DNA SEQ - - Family 42; patient 1 Renal coloboma syndrome Daughter of Family 42; patient 2. Detailed clinical description in Naito et al., 1989. polydactyly; VSD - - Female Naito et al., 1989 Higashide et al., 2005 Optic nerve coloboma-bilateral; foveal hypoplasia; horizontal nystagmus Renal malrotation; Anomalous renal pelves - - - - - 1
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Legend: [ PAX2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon/Intron numbering. DNA change: DNA change Var_pub_as: Variant published as RNA change: RNA change Protein: Protein change PAX2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Variant origin: Variant origin Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. Template: Template Technique: Technique Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Patient ID: Internal reference to the patient. Disease: Disease phenotype Phenotype additional: Phenotype, additional features Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: Patient gender Reference_patient: Reference describing the patient(s), when different from the variant reference. Eye: Eye Kidney: Kidney Neuro: Neuro Renal pathology: Renal pathology Prenatal findings: Prenatal findings Age at end stage renal disease: Age at end stage renal disease Renal transplant age: Renal transplant age # Reported: Number of times this case has been reported