Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: ADGRA3EnsemblGeneIds (GRCh38): ENSG00000152990
EnsemblGeneIds (GRCh37): ENSG00000152990
OMIM: 612303, Gene2Phenotype
ADGRA3 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adgra3 has been classified as Red List (Low Evidence).
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
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