Rare multisystem ciliopathy disorders
Gene: CRB2
CRB2 (crumbs 2, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000148204
EnsemblGeneIds (GRCh37): ENSG00000148204
OMIM: 609720, Gene2Phenotype
CRB2 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000148204
EnsemblGeneIds (GRCh37): ENSG00000148204
OMIM: 609720, Gene2Phenotype
CRB2 is in 9 panels
1 review
Alice Gardham (Genomics England)
Mutations identified in four individuals from three families. Overlapping phenotype with ciliopathy -brain anomalies, polydactyly, cystic kidneysCreated: 25 Jan 2017, 12:11 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
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Ventriculomegaly with cystic kidney disease 219730
- OMIM
- 609720
- Clinvar variants
- Variants in CRB2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
26 Jan 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
25 Jan 2017, Gel status: 4
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for CRB2 were set to Ventriculomegaly with cystic kidney disease 219730
25 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
9 Mar 2016, Gel status: 0
Created
Richard Scott (Genomics England Curator)CRB2 was created by richardhywel
9 Mar 2016, Gel status: 0
Added New Source
Richard Scott (Genomics England Curator)CRB2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert Review