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Intellectual disability

Gene: RAP1GDS1

Red List (low evidence)

RAP1GDS1 (Rap1 GTPase-GDP dissociation stimulator 1)
EnsemblGeneIds (GRCh38): ENSG00000138698
EnsemblGeneIds (GRCh37): ENSG00000138698
OMIM: 179502, Gene2Phenotype
RAP1GDS1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: The same variant identified in two families from the region, indicating a possible founder effect. Therefore rated Red as there is not currently enough evidence that other variants in the RAP1GDS1 gene are disease causing.
Created: 27 Aug 2020, 12:39 p.m. | Last Modified: 27 Aug 2020, 12:39 p.m.
Panel Version: 3.270
PMID: 32431071 (2020) - The same homozygous splice acceptor site variant was identified in four patients from two consanguineous Saudi families with ID, global DD, and hypotonia. The variant segregated with the disorder in both families and RT‐PCR analysis confirmed aberrant splicing and decreased mRNA expression, but no further functional studies were performed.
Created: 27 Aug 2020, 12:36 p.m. | Last Modified: 27 Aug 2020, 12:36 p.m.
Panel Version: 3.269

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Global developmental delay; Hypotonia

Publications

Zornitza Stark (Australian Genomics)

I don't know

Four individuals from two consanguineous families, same homozygous splice site variant detected, borderline Red/Amber.
Sources: Literature
Created: 6 Jul 2020, 7:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; dysmorphic features

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability
  • dysmorphic features
Tags
founder-effect
OMIM
179502
Clinvar variants
Variants in RAP1GDS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag founder-effect tag was added to gene: RAP1GDS1.

27 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rap1gds1 has been classified as Red List (Low Evidence).

6 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RAP1GDS1 was added gene: RAP1GDS1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAP1GDS1 were set to 32431071 Phenotypes for gene: RAP1GDS1 were set to Intellectual disability; dysmorphic features Review for gene: RAP1GDS1 was set to AMBER