Retinal disorders
Gene: CACNA2D4
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.
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.
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 panelCreated: 1 Jun 2016, 9:57 a.m.
Mode of inheritance
Unknown
Phenotypes
Cone dystrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to CACNA2D4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: cacna2d4 has been classified as Green List (High Evidence).
Publications for gene: CACNA2D4 were set to 17033974
Publications for gene: CACNA2D4 were set to
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
CACNA2D4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
CACNA2D4 was created by ellenmcdonagh