Structural eye disease
Gene: CNGB3

CNGB3 (cyclic nucleotide gated channel beta 3)
EnsemblGeneIds (GRCh38): ENSG00000170289
EnsemblGeneIds (GRCh37): ENSG00000170289
OMIM: 605080, Gene2Phenotype
CNGB3 is in 4 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
Macular degeneration, juvenile; Achromatopsia-3; 248200; 262300

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
Macular degeneration, juvenile, 248200; Achromatopsia-3, 262300

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

Achromatopsia-3, 262300
Macular degeneration, juvenile, 248200
Eye Disorders

OMIM

605080

Clinvar variants

Variants in CNGB3

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 CNGB3. Mode of inheritance for gene CNGB3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Achromatopsia-3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CNGB3 was added gene: CNGB3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CNGB3 was set to Phenotypes for gene: CNGB3 were set to Eye Disorders

Structural eye disease Gene: CNGB3