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Intellectual disability

Gene: ARHGAP31

Red List (low evidence)

ARHGAP31 (Rho GTPase activating protein 31)
EnsemblGeneIds (GRCh38): ENSG00000031081
EnsemblGeneIds (GRCh37): ENSG00000031081
OMIM: 610911, Gene2Phenotype
ARHGAP31 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Gain of function. Associated with phenotype in OMIM and as a probable G2P. At least 2 variants reported, however, intellectual disability is rarely associated with this phenotype
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Adams-Oliver syndrome 1 100300

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Adams-Oliver syndrome 1 100300
OMIM
610911
Clinvar variants
Variants in ARHGAP31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGAP31 was added to Intellectual disability panel. Sources: Expert Review Red

29 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ARHGAP31 was created by Ellen McDonagh