Structural eye disease
Gene: CIB2

CIB2 (calcium and integrin binding family member 2)
EnsemblGeneIds (GRCh38): ENSG00000136425
EnsemblGeneIds (GRCh37): ENSG00000136425
OMIM: 605564, Gene2Phenotype
CIB2 is in 7 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IJ; 614869

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IJ, 614869

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Usher syndrome, type IJ, 614869
Eye Disorders

OMIM

605564

Clinvar variants

Variants in CIB2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CIB2. Mode of inheritance for gene CIB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type IJ, 614869 for gene: CIB2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CIB2 was added gene: CIB2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CIB2 was set to Phenotypes for gene: CIB2 were set to Eye Disorders

Structural eye disease Gene: CIB2