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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Only one report of a missense that is a VUS identified as a candidate through autozygome analysis (PMID: 23105016)
Sources: Expert Review
Created: 1 Aug 2022, 12:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa, MONDO:0019200, ADGRA3-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
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

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRA3 was added gene: ADGRA3 was added to Mendeliome. Sources: Expert Review 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 Retinitis pigmentosa, MONDO:0019200, ADGRA3-related Review for gene: ADGRA3 was set to RED