Cerebral vascular malformations

Gene: CRB1

Red List (low evidence)

CRB1 (crumbs 1, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000134376
EnsemblGeneIds (GRCh37): ENSG00000134376
OMIM: 604210, Gene2Phenotype
CRB1 is in 10 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Pigmented paravenous chorioretinal atrophy MIM#172870
OMIM
604210
Clinvar variants
Variants in CRB1
Penetrance
None
Panels with this gene

History Filter Activity

26 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crb1 has been classified as Red List (Low Evidence).

26 Nov 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRB1 were changed from Pigmented Paravenous Chorioretinal Atrophy to Pigmented paravenous chorioretinal atrophy MIM#172870

18 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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