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Limb disorders

Gene: ARHGAP31

Green List (high evidence)
ARHGAP31 (Rho GTPase activating protein 31)
EnsemblGeneIds (GRCh38): ENSG00000031081
EnsemblGeneIds (GRCh37): ENSG00000031081
OMIM: 610911, Gene2Phenotype
ARHGAP31 is in 7 panels

3 reviews

Eleanor Williams (Genomics England Curator)

PMID: 21565291 (Southgate et al 2011) report that the two variants found have a gain of function.
Created: 9 Sep 2018, 9:01 p.m.
Another case of a variant in ARHGAP31 associated with Adams–Oliver syndrome is reported in Meester et al (2018) (PMID: 29924900)
Created: 9 Sep 2018, 8:42 p.m.
Created: 9 Sep 2018, 8:42 p.m.

Panel version: 0.147

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Only two variants reported in this phenotype.
Created: 11 Jul 2016, 10:37 a.m.
Created: 11 Jul 2016, 10:37 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.399

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 1 100300

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:01 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Adams-Oliver syndrome 1, 100300
OMIM
610911
Clinvar variants
Variants in ARHGAP31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

9 Sep 2018, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ARHGAP31 were set to 21565291

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ARHGAP31 were set to Adams-Oliver syndrome 1, 100300

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to ARHGAP31. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to ARHGAP31. Panel: Limb disorders Emory Genetics Laboratory was added to ARHGAP31. Panel: Limb disorders UKGTN was added to ARHGAP31. Panel: Limb disorders Expert Review Green was added to ARHGAP31. Panel: Limb disorders Expert list was added to ARHGAP31. Panel: Limb disorders Model of inheritance for gene ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene ARHGAP31 was set to ['21565291']

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to ARHGAP31. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGAP31 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ARHGAP31 was created by Ellen McDonagh