Skeletal dysplasia
Gene: CRB1

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

1 review

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

Created: 4 May 2022, 10:20 a.m.
Last Modified: 4 May 2022, 10:20 a.m.
Panel version: Imported from Mendeliome panel version 0.13725

Details

Sources

Expert Review Green
Emory Genetics Laboratory

OMIM

604210

Clinvar variants

Variants in CRB1

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRB1 was added gene: CRB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: CRB1 was set to

Skeletal dysplasia Gene: CRB1