Intellectual disability update Jan 2018
Gene: GPRASP1

GPRASP1 (G protein-coupled receptor associated sorting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000198932
EnsemblGeneIds (GRCh37): ENSG00000198932
OMIM: 300417, Gene2Phenotype
GPRASP1 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Candidate gene from Grozeva et al, 2015 but not listed as a gene with likely pathogenic LoF or missense variants. No phenotype associated with gene in OMIM or Gene2Phenotype. Cao and Aypar 2016 (PMID:26995686) report first male case of a novel Xq22.1 deletion encompassing GPRASP1 and with ID phenotype. Zhou et al 2014 (PMID:24569167) report mouse model with Xq22.1 deletion and similar phenotype.
Created: 6 Mar 2018, 10:42 a.m.

Created: 6 Mar 2018, 10:11 a.m.

Panel version: 0.356

Details

Sources

Expert Review Red

OMIM

300417

Clinvar variants

Variants in GPRASP1

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

6 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for GPRASP1 were set to 26995686; 24569167

6 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GPRASP1 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red