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Prepair 1000+

Gene: CNGA3

Amber List (moderate evidence)

CNGA3 (cyclic nucleotide gated channel alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000144191
EnsemblGeneIds (GRCh37): ENSG00000144191
OMIM: 600053, Gene2Phenotype
CNGA3 is in 6 panels

3 reviews

Michelle Torres (Victorian Clinical Genetics Services)

I don't know

Achromatopsia caused by variants in the CNGA3 gene often results in a milder and incomplete presentation, and is predominantly stationary. The evidence available for probands with progressive BCVA, both in their study and in the literature, is not conclusive (PMID: 36980963).
Created: 8 Jan 2025, 2:58 a.m. | Last Modified: 8 Jan 2025, 2:58 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 2 MIM#216900

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Congenital visual impairment, which is significant but not complete/progressive. R/V ZS/SL/AY/JM/CL/AA.
Created: 11 Aug 2022, 7:11 a.m. | Last Modified: 11 Aug 2022, 7:11 a.m.
Panel Version: 0.114

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 2 (MIM#216900)

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Well established gene disease association. Age of onset is highly variable but can be early onset. However, unsure if severity meets criteria for reporting

Consider for exclusion on phenotype grounds
Created: 15 Jul 2022, 1:20 a.m. | Last Modified: 15 Jul 2022, 1:20 a.m.
Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 2 (MIM#216900)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Achromatopsia-2, 216900 (3)
OMIM
600053
Clinvar variants
Variants in CNGA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnga3 has been classified as Amber List (Moderate Evidence).

11 Aug 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNGA3 were set to

11 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnga3 has been classified as Amber List (Moderate Evidence).

11 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: CNGA3.

15 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: CNGA3.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNGA3 was added gene: CNGA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNGA3 were set to Achromatopsia-2, 216900 (3)