LOVD - Current system status

2016/05/27 00:20:34 CEST - Friday, May 27th 2016

Gene symbol Gene name Total variants Unique variants Patients
AARS alanyl-tRNA synthetase 3 3 3
ACO2 aconitase 2, mitochondrial 16 1 8
ACP5 acid phosphatase 5, tartrate resistant 20 9 10
AGK Acylglycerol kinase 2 1 1
ALG11 Asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) 8 6 4
ANKH Ankylosis, progressive homolog (mouse) 20 1 17
ASXL1 additional sex combs like 1 (Drosophila) 7 7 7
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 0 0 0
BICC1 Bicaudal C homolog 1 (Drosophila) 3 2 3
BIRC5 Baculoviral IAP repeat containing 5 4 3 2
BTD Biotinidase 137 28 80
C5orf42 chromosome 5 open reading frame 42 24 8 12
CARD14 caspase recruitment domain family, member 14 16 16 16
CASP1 Caspase 1, apoptosis-related cysteine peptidase 7 7 7
CCS Copper chaperone for superoxide dismutase 1 1 1
CDON Cdon homolog (mouse) 61 44 61
CELSR1 Cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) 191 33 172
CEP57 centrosomal protein 57kDa 8 3 4
CHRNG Cholinergic receptor, nicotinic, gamma polypeptide 34 25 29
CHST1 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 0 0 0
CHST10 carbohydrate sulfotransferase 10 0 0 0
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 0 0 0
CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 0 0 0
CHST13 carbohydrate (chondroitin 4) sulfotransferase 13 0 0 0
CHST15 carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 0 0 0
CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 0 0 0
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 0 0 0
CHST4 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 0 0 0
CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 0 0 0
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 0 0 0
CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 0 0 0
CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 0 0 0
CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 0 0 0
CHST9AS1 CHST9 antisense RNA 1 (non-protein coding) 0 0 0
COLEC11 collectin sub-family member 11 14 4 7
CSMD1 CUB and Sushi multiple domains 1 16 16 6
DACT1 Dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) 5 5 5
DDOST Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 2 2 1
DIS3L2 DIS3 mitotic control homolog (S. cerevisiae)-like 2 9 4 5
DNMT1 DNA (cytosine-5-)-methyltransferase 1 4 2 4
EXOSC3 exosome component 3 19 6 14
FAM20A Family with sequence similarity 20, member A 8 5 4
FLCN Folliculin 162 152 159
FXR2 Fragile X mental retardation, autosomal homolog 2 0 0 0
FZD3 Frizzled family receptor 3 9 3 9
FZD6 Frizzled family receptor 6 21 9 17
GPR172B G protein-coupled receptor 172B 0 0 0
HPGDS Hematopoietic prostaglandin D synthase 0 0 0
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A 0 0 0
IFT140 Intraflagellar transport 140 homolog (Chlamydomonas) 10 10 6
IGF2BP1 Insulin-like growth factor 2 mRNA binding protein 1 0 0 0
IGSF23 Immunoglobulin superfamily, member 23 0 0 0
IRX5 iroquois homeobox 5 2 2 2
KANSL1 KAT8 regulatory NSL complex subunit 1 59 34 36
KCND3 Potassium voltage-gated channel, Shal-related subfamily, member 3 3 3 3
KIF1A kinesin family member 1A 16 2 8
KIF22 kinesin family member 22 9 5 7
KLHL3 kelch-like 3 (Drosophila) 0 0 0
LAMC3 laminin, gamma 3 7 5 4
LMBR1 Limb region 1 homolog (mouse) 1 1 1
MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) 18 10 18
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 12 3 6
MAX MYC associated factor X 12 8 12
MRPL3 mitochondrial ribosomal protein L3 4 2 2
MTAP methylthioadenosine phosphorylase 5 2 5
MTBP Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 4 1 3
MTNR1B melatonin receptor 1B 0 0 0
MYBPC1 Myosin binding protein C, slow type 2 1 1
NDE1 nudE nuclear distribution gene E homolog 1 (A. nidulans) 4 1 2
NSUN2 NOP2/Sun domain family, member 2 0 0 0
PBRM1 Polybromo 1 0 0 0
PIK3R5 Phosphoinositide-3-kinase, regulatory subunit 5 3 1 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 171 81 129
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 2 2 1
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 12 8 6
PRRT2 Proline-rich transmembrane protein 2 17 17 14
RGS3 Regulator of G-protein signaling 3 4 1 3
ROGDI Rogdi homolog (Drosophila) 16 8 8
RPL26 Ribosomal protein L26 1 1 1
SCN8A sodium channel, voltage gated, type VIII, alpha subunit 1 1 1
SCNN1A sodium channel, nonvoltage-gated 1 alpha 17 17 17
SCNN1B sodium channel, nonvoltage-gated 1, beta 12 12 12
SCNN1G sodium channel, nonvoltage-gated 1, gamma 12 12 12
SCRIB Scribbled homolog (Drosophila) 113 16 111
SEC24B SEC24 family, member B (S. cerevisiae) 4 4 4
SEPT12 Septin 12 2 2 2
SF3B4 splicing factor 3b, subunit 4, 49kDa 25 18 25
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 12 8 6
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 11 7 11
SLC29A3 solute carrier family 29 (nucleoside transporters), member 3 34 14 18
SLC30A10 solute carrier family 30, member 10 15 8 15
SLC4A1 Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) 0 0 0
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 0 0 0
SLC4A4 Solute carrier family 4, sodium bicarbonate cotransporter, member 4 77 26 31
SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5 0 0 0
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 0 0 0
SLC4A8 solute carrier family 4, sodium bicarbonate cotransporter, member 8 0 0 0
SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 0 0 0
SLC6A3 Solute Carrier Family 6 (Neurotransmitter Transporter, Dopamine), Member 3 13 13 10
SLC6A5 Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 0 0 0
SLCO2A1 Solute carrier organic anion transporter family, member 2A1 70 23 48
SOX5 SRY (sex determining region Y)-box 5 6 6 6
SULT1A1 Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 0 0 0
SULT1A2 Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 0 0 0
TBX22 T-box 22 1049 39 292
TMEM237 Transmembrane protein 237 40 6 20
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 0 0 0
TRPV3 transient receptor potential cation channel, subfamily V, member 3 3 3 3
TTC19 tetratricopeptide repeat domain 19 8 2 4
VAX1 Ventral anterior homeobox 1 2 1 1
VAX2 Ventral anterior homeobox 2 0 0 0
ZNF195 Zinc finger protein 195 0 0 0
ZNF644 zinc finger protein 644 17 6 17
ZNF778 zinc finger protein 778 0 0 0
  Total of 114 gene entries 2768 859 1611