Congenital Glaucoma Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Eye disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | CYP1B1/1545 | cytochrome P450 family 1 subfamily B member 1 | 2p22.2 | Chr2, NC_000002.12 (38067509..38076151, complement) |
8643 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |