GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Persistent Hyperplastic Primary Vitreous 
An Autosomal dominant, Autosomal recessive mode(s) within the Eye 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 ATOH7/220202 atonal bHLH transcription factor 7 10q21.3 Chr10, NC_000010.11
(68230595..68232113, complement)
1519 nt 1 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:                GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development