Cerebral vascular malformations
Gene: CRB1
Cerebral vascular malformations is not associated with this gene.Created: 25 Nov 2024, 3:53 a.m. | Last Modified: 25 Nov 2024, 3:53 a.m.
Panel Version: 0.39
gene reviews:
CRB1 accounts for ~10% of LCA/EOSRD cases
No genotype-phenotype correlation has been specifically confirmed (PMID: 32922261). (PMID:15459956) suggests that LCA is due to complete CRB1 loss of function while RP (less severe, with later onset) has residual CRB1 function, however, no specific evidence clearly demonstrating this has been found, and has not been mentioned in recent reviews (PMIDs: 15459956, 32922261, 31884620).Created: 4 May 2022, 10:20 a.m. | Last Modified: 4 May 2022, 10:20 a.m.
Panel Version: 0.13725
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 8 MIM#613835; Pigmented paravenous chorioretinal atrophy MIM#172870; Retinitis pigmentosa-12 MIM#600105
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: crb1 has been classified as Red List (Low Evidence).
Phenotypes for gene: CRB1 were changed from Pigmented Paravenous Chorioretinal Atrophy to Pigmented paravenous chorioretinal atrophy MIM#172870
gene: CRB1 was added gene: CRB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRB1 were set to Pigmented Paravenous Chorioretinal Atrophy