Retinitis pigmentosa_Autosomal Recessive/X-linked

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 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Only one report of a missense that is a VUS identified as a candidate through autozygome analysis (PMID: 23105016)
Created: 7 Feb 2020, 10:38 a.m. | Last Modified: 7 Feb 2020, 10:38 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, ADGRA3-related
OMIM
612303
Clinvar variants
Variants in ADGRA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adgra3 has been classified as Red List (Low Evidence).

1 Aug 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADGRA3 were changed from retinal dystrophy to Retinitis pigmentosa, MONDO:0019200, ADGRA3-related

23 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ADGRA3 was added gene: ADGRA3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Red Mode of inheritance for gene: ADGRA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRA3 were set to 23105016 Phenotypes for gene: ADGRA3 were set to retinal dystrophy