Hydrocephalus
Gene: CRB2EnsemblGeneIds (GRCh38): ENSG00000148204
EnsemblGeneIds (GRCh37): ENSG00000148204
OMIM: 609720, Gene2Phenotype
CRB2 is in 9 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
3 unrelated families from above PMID.Created: 25 May 2017, 2:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly with cystic kidney disease 219730
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Ventriculomegaly with cystic kidney disease, OMIM:219730
- OMIM
- 609720
- Clinvar variants
- Variants in CRB2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CRB2 were changed from Ventriculomegaly with cystic kidney disease 219730 to Ventriculomegaly with cystic kidney disease, OMIM:219730
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CRB2.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Helen Brittain (Genomics England Curator)CRB2 was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)CRB2 was added to Hydrocephaluspanel. Sources: Literature