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  2. Structural eye disease
  3. CNGA1
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Structural eye disease

Gene: CNGA1

Red List (low evidence)
CNGA1 (cyclic nucleotide gated channel alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000198515
EnsemblGeneIds (GRCh37): ENSG00000198515
OMIM: 123825, Gene2Phenotype
CNGA1 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
Retinitis pigmentosa 49; 613756

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
Retinitis pigmentosa 49, 613756

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
  • Retinitis pigmentosa 49, OMIM:613756
OMIM
123825
Clinvar variants
Variants in CNGA1
Penetrance
None
Panels with this gene

History Filter Activity

20 Feb 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CNGA1 were changed from Retinitis pigmentosa 49, 613756; Eye Disorders to Retinitis pigmentosa 49, OMIM:613756

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 CNGA1. Mode of inheritance for gene CNGA1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 49, 613756 for gene: CNGA1

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CNGA1 was added gene: CNGA1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CNGA1 was set to Phenotypes for gene: CNGA1 were set to Eye Disorders