GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Shukla-Vernon Syndrome 
An X-linked recessive mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 BCORL1/63035 BCL6 corepressor like 1 Xq26.1 ChrX, NC_000023.11
(129980313..130058071)
77759 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:                GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities