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  2. Renal Ciliopathies and Nephronophthisis
  3. CRB2
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Renal Ciliopathies and Nephronophthisis

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported, mouse model.
Sources: Expert list
Created: 30 Dec 2019, 11 p.m. | Last Modified: 15 Mar 2021, 1:32 a.m.
Panel Version: 0.124

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventriculomegaly with cystic kidney disease, MIM# 219730

Publications

Created: 30 Dec 2019, 11 p.m.
Last Modified: 15 Mar 2021, 1:32 a.m.
Panel version: 0.124

Details

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

History Filter Activity

15 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRB2 were set to 25557780

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crb2 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crb2 has been classified as Green List (High Evidence).

30 Dec 2019, 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 Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list 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, MIM# 219730 Review for gene: CRB2 was set to GREEN