Irido-corneo-trabecular Dysgenesis(Peters Anomaly) 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 |
| 2 | PAX6/5080 | paired box 6 | 11p13 | Chr11, NC_000011.10 (31789026..31817961, complement) |
28936 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PTCH1/5727 | patched 1 | 9q22.32 | Chr9, NC_000009.12 (95442980..95516971, complement) |
73992 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | FAT4/79633 | FAT atypical cadherin 4 | 4q28.1 | Chr4, NC_000004.12 (125314955..125492932) |
177978 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | FAT1/2195 | FAT atypical cadherin 1 | 4q35.2 | Chr4, NC_000004.12 (186587794..186726696, complement) |
138903 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | PITX2/5308 | paired like homeodomain 2 | 4q25 | Chr4, NC_000004.12 (110617423..110642123, complement) |
24701 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | BMP4/652 | bone morphogenetic protein 4 | 14q22.2 | Chr14, NC_000014.9 (53949736..53956891, complement) |
7156 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | ARHGAP35/2909 | Rho GTPase activating protein 35 | 19q13.32 | Chr19, NC_000019.10 (46860997..47005077) |
144081 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | COL4A1/1282 | collagen type IV alpha 1 chain | 13q34 | Chr13, NC_000013.11 (110148963..110307157, complement) |
158195 nt | 53 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |