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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. CRB2
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CRB2

Amber List (moderate evidence)
CRB2 (crumbs 2, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000148204
EnsemblGeneIds (GRCh37): ENSG00000148204
OMIM: 609720, Gene2Phenotype
CRB2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported with isolated RP. Multiple lines of functional evidence support role of CRB2 in retinal epithelium. Families also reported with multi-system ciliopathy phenotype.
Sources: Expert Review
Created: 15 Mar 2021, 2:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

Created: 15 Mar 2021, 2:37 a.m.

Panel version: 0.83

History Filter Activity

15 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crb2 has been classified as Amber List (Moderate Evidence).

15 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crb2 has been classified as Amber List (Moderate Evidence).

15 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRB2 was added gene: CRB2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 30593785; 31438467; 33575434; 30239717 Phenotypes for gene: CRB2 were set to Retinitis pigmentosa Review for gene: CRB2 was set to AMBER