1. Panels
  2. Cerebral vascular malformations
  3. CRB1
STRs in panel
Prev Next
Regions in panel
Prev Next

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

1 review

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
Created: 25 Nov 2024, 3:53 a.m.
Last Modified: 25 Nov 2024, 3:53 a.m.
Panel version: 0.39

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