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  3. ARHGAP31
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Hand and foot malformations

Gene: ARHGAP31

Green List (high evidence)
ARHGAP31 (Rho GTPase activating protein 31)
EnsemblGeneIds (GRCh38): ENSG00000031081
EnsemblGeneIds (GRCh37): ENSG00000031081
OMIM: 610911, Gene2Phenotype
ARHGAP31 is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 families reported with limb anomalies
Created: 22 Sep 2021, 3:30 a.m. | Last Modified: 22 Sep 2021, 3:30 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 1 MIM#100300

Publications

Created: 22 Sep 2021, 3:30 a.m.
Last Modified: 22 Sep 2021, 3:30 a.m.
Panel version: 0.4

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Classically cutis aplasia and transverse limb defects with normal cognition, intellectual disability rare.
Created: 23 Nov 2019, 8:04 a.m. | Last Modified: 23 Nov 2019, 8:04 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 1, MIM#100300

Created: 23 Nov 2019, 8:04 a.m.
Last Modified: 23 Nov 2019, 8:04 a.m.
Panel version: Imported from Mendeliome panel version Imported from Callosome_VCGS panel version Imported from Intellectual disability, syndromic and non-syndromic_GHQ panel version 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Adams-Oliver syndrome 1 100300
OMIM
610911
Clinvar variants
Variants in ARHGAP31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arhgap31 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ARHGAP31 were set to

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARHGAP31 was added gene: ARHGAP31 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARHGAP31 were set to Adams-Oliver syndrome 1 100300