Retinal disorders
Gene: ADGRA3
removeCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Not enough evidence to include on the panel.Created: 1 Jun 2016, 9:44 a.m.
Mode of inheritance
Unknown
Phenotypes
Not enough information
Publications
Comment on list classification: Not enough evidence to date for variants in this gene to be on this panel.Created: 2 Jun 2016, 8:14 a.m.
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, 8:05 a.m.
On expert list as GPR125 - the HGNC-approved name for this is ADGRA3.Created: 15 Mar 2016, 10:39 a.m.
Source NHS GMS was added to ADGRA3.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for ADGRA3 were set to PMID: 23105016 identified a novel missense variant in a conserved residue in a Saudi Arabian family with nonsyndromic retinal pigmentosa.
This gene has been classified as Amber List (Moderate Evidence).
ADGRA3 was created by ellenmcdonagh
ADGRA3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green