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 13 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: No association with cerebral vascular malformations
Created: 12 Dec 2016, 2:50 p.m.
No association with cerebral vascular malformations
Created: 12 Dec 2016, 2:50 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pigmented Paravenous Chorioretinal Atrophy
OMIM
604210
Clinvar variants
Variants in CRB1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CRB1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CRB1.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CRB1 was created by ellenmcdonagh

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CRB1 was added to Cerebrovascular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services