Prepair 1000+

Gene: CNGA3

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

• 36980963

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)

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

• 11536077
• 35332618