LOVD - Variant listings for SPRED1

About this overview [Show]

Patient data (#0062268)
Patient ID UAB-S142
Disease Legius Syndrome
Phenotype additional 17-yo boy with >6 typical CALMs, mild scoliosis. Father is reported to have multiple CALMs and a learning disability.
Remarks -
Ref_pat-pheno Messiaen UAB, unpublished
Inherit germline (inherited)
Consang. -
Fam_Pat -
# Reported 1
Geographic origin -
Ethnic origin -
Gender M
Phenotype/Onset -
Histology -
Submitter Ludwine Messiaen

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 6-7
DNA change c.583-2851-?_*80+?del
RNA change r.(?)
Protein p.(?)
Domains -
Type deletion
Variant predicted effect CNC
Genetic origin familial
Technique gDNA SEQ and MLPA
Tissue blood
Template DNA
DB-ID SPRED1_00128
Reference Messiaen UAB, unpublished novel mutation
Variant remarks novel, 5.2kb->11.9kb deletion
do not use familial
Evol cons in C. jacchus not applicable
Evol cons in M. musculus not applicable
Evol cons in R. norvegicus not applicable
Evol cons in B. taurus not applicable
Evol cons in O. cuniculus not applicable
Evol cons in X. tropicalis not applicable
Evol cons in D. rerio not applicable
Evol cons in D. melanogaster not applicable
PC12 functional assay -
ELK1 functional assay -

1 entry in SPRED1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Domains Descending
Ascending
Type Descending
Ascending
Variant predicted effect Descending
Ascending
Genetic origin Descending
Ascending
Technique Descending
Ascending
Tissue Descending
Ascending
Template Descending
Ascending
DB-ID Descending
Ascending
Reference Descending
Ascending
Variant remarks Descending
Ascending
do not use Descending
Ascending
Evol cons in C. jacchus Descending
Ascending
Evol cons in M. musculus Descending
Ascending
Evol cons in R. norvegicus Descending
Ascending
Evol cons in B. taurus Descending
Ascending
Evol cons in O. cuniculus Descending
Ascending
Evol cons in X. tropicalis Descending
Ascending
Evol cons in D. rerio Descending
Ascending
Evol cons in D. melanogaster Descending
Ascending
PC12 functional assay Descending
Ascending
ELK1 functional assay Descending
Ascending
+/+ Unknown 6-7 c.583-2851-?_*80+?del r.(?) p.(?) - deletion CNC familial gDNA SEQ and MLPA blood DNA SPRED1_00128 Messiaen UAB, unpublished novel mutation novel, 5.2kb->11.9kb deletion familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -