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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. CNGA1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CNGA1

Green List (high evidence)
CNGA1 (cyclic nucleotide gated channel alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000198515
EnsemblGeneIds (GRCh37): ENSG00000198515
OMIM: 123825, Gene2Phenotype
CNGA1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Approximately 1-2% of RP cases are caused by CNGA1
Created: 29 Apr 2022, 8 a.m. | Last Modified: 29 Apr 2022, 8 a.m.
Panel Version: 0.120

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 49 MIM#613756

Publications

Created: 29 Apr 2022, 8 a.m.
Last Modified: 29 Apr 2022, 8 a.m.
Panel version: 0.120

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 49, 613756
OMIM
123825
Clinvar variants
Variants in CNGA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnga1 has been classified as Green List (High Evidence).

29 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNGA1 were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CNGA1 was added gene: CNGA1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CNGA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CNGA1 were set to Retinitis pigmentosa 49, 613756