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  2. Structural eye disease
  3. CNGA3
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Structural eye disease

Gene: CNGA3

Red List (low evidence)
CNGA3 (cyclic nucleotide gated channel alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000144191
EnsemblGeneIds (GRCh37): ENSG00000144191
OMIM: 600053, Gene2Phenotype
CNGA3 is in 3 panels

2 reviews

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

Red List (low evidence)

Greenberg: one family with coloboma-like lesion
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia-2; 216900

Publications

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). Greenberg: one family with coloboma-like lesion
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia-2, 216900

Publications

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-2, 216900
  • Eye Disorders
OMIM
600053
Clinvar variants
Variants in CNGA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CNGA3. Mode of inheritance for gene CNGA3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Achromatopsia-2, 216900 for gene: CNGA3 Publications for gene CNGA3 were changed from to 24504161

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CNGA3 was added gene: CNGA3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CNGA3 was set to Phenotypes for gene: CNGA3 were set to Eye Disorders