Structural eye disease
Gene: CABP4

CABP4 (calcium binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000175544
EnsemblGeneIds (GRCh37): ENSG00000175544
OMIM: 608965, Gene2Phenotype
CABP4 is in 3 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
Night blindness, congenital stationary (incomplete), 2B, autosomal recessive; 610427

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
Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427

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

Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Eye Disorders

OMIM

608965

Clinvar variants

Variants in CABP4

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 CABP4. Mode of inheritance for gene CABP4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 for gene: CABP4

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CABP4 was added gene: CABP4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CABP4 was set to Phenotypes for gene: CABP4 were set to Eye Disorders

Structural eye disease Gene: CABP4