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Achromatopsia

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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, over 100 families reported.
Created: 12 Sep 2020, 12:43 a.m. | Last Modified: 12 Sep 2020, 12:43 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 2, MIM# 216900

Publications

Created: 12 Sep 2020, 12:43 a.m.
Last Modified: 12 Sep 2020, 12:43 a.m.
Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Achromatopsia 2 MIM#216900
OMIM
600053
Clinvar variants
Variants in CNGA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

(Other)

Gene: cnga3 has been classified as Red List (Low Evidence).

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnga3 has been classified as Green List (High Evidence).

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNGA3 were set to

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cnga3 has been classified as Green List (High Evidence).

25 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CNGA3 was added gene: CNGA3 was added to Achromatopsia. Sources: Expert list Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900