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  3. ADGRA3
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Retinal disorders

Gene: ADGRA3

Red List (low evidence)
ADGRA3 (adhesion G protein-coupled receptor A3)
EnsemblGeneIds (GRCh38): ENSG00000152990
EnsemblGeneIds (GRCh37): ENSG00000152990
OMIM: 612303, Gene2Phenotype
ADGRA3 is in 1 panel

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

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Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Simon Ramsden (NHS)

I don't know

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

  • None relevant

Created: 1 Jun 2016, 9:44 a.m.

Panel version: 0.167

Ellen McDonagh (Genomics England Curator)

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.
Created: 15 Mar 2016, 10:39 a.m.

Panel version: 0.10

Details

Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
OMIM
612303
Clinvar variants
Variants in ADGRA3
Penetrance
Complete
Publications
  • PMID: 23105016 identified a novel missense variant in a conserved residue in a Saudi Arabian family with nonsyndromic retinal pigmentosa.
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ADGRA3.

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

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.

15 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADGRA3 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ADGRA3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green