Groopman et al 2019 - Genes with diagnostic variants
Gene: CRB2

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: CRB2; Inheritance: AR; Clinical diagnosis: Glomerulopathy; Genetic diagnosis: Focal segmental glomerulosclerosis 9; OMIM phenotype MIM no.:616220; Number of cases: 2 (homozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Exper review amber
Literature

Phenotypes

Focal segmental glomerulosclerosis 9
Glomerulopathy
MIM 616220

OMIM

609720

Clinvar variants

Variants in CRB2

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to CRB2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: CRB2 was added gene: CRB2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRB2 were set to Focal segmental glomerulosclerosis 9; Glomerulopathy; MIM 616220

Groopman et al 2019 - Genes with diagnostic variants Gene: CRB2