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Intellectual disability syndromic and non-syndromic

Gene: ADGRB3

Red List (low evidence)

ADGRB3 (adhesion G protein-coupled receptor B3)
EnsemblGeneIds (GRCh38): ENSG00000135298
EnsemblGeneIds (GRCh37): ENSG00000135298
OMIM: 602684, Gene2Phenotype
ADGRB3 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family with intragenic bi-allelic duplications and ID reported; association studies with schizophrenia.
Sources: Literature
Created: 11 Dec 2019, 2:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability
OMIM
602684
Clinvar variants
Variants in ADGRB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adgrb3 has been classified as Red List (Low Evidence).

11 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRB3 was added gene: ADGRB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: ADGRB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRB3 were set to 30659260; 18628273 Phenotypes for gene: ADGRB3 were set to Intellectual disability Review for gene: ADGRB3 was set to RED