Retinal disorders

Gene: CACNA2D4

Green List (high evidence)

Comment on list classification: Promoted from red to green. CACNA2D4 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with retinal cone dystrophy with different variants in CACNA2D4. Therefore, there is enough evidence to promote this gene to green status.

Created: 2 Apr 2019, 11:44 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal cone dystrophy 4

Variants in this GENE are reported as part of current diagnostic practice

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:06 a.m.

I don't know

Included on diagnostic panel on basis of a single reported association with cone dystrophy. We have not replicated this finding - on this basis insufficient evidence to include on the panel

Created: 1 Jun 2016, 9:57 a.m.

Mode of inheritance
Unknown

Phenotypes
Cone dystrophy

Publications

• PMID: 17033974

Variants in this GENE are reported as part of current diagnostic practice