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  3. CRB2
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Neurological ciliopathies

Gene: CRB2

Green List (high evidence)
CRB2 (crumbs 2, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000148204
EnsemblGeneIds (GRCh37): ENSG00000148204
OMIM: 609720, Gene2Phenotype
CRB2 is in 9 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in four individuals from three families. Overlapping phenotype with ciliopathy -brain anomalies, polydactyly, cystic kidneys
Created: 25 Jan 2017, 12:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventriculomegaly with cystic kidney disease 219730

Publications

Created: 25 Jan 2017, 12:11 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.455

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
OMIM
609720
Clinvar variants
Variants in CRB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CRB2 was added gene: CRB2 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 25557780 Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease 219730