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  3. ARHGAP31
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Skeletal dysplasia

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Classically cutis aplasia and transverse limb defects with normal cognition, intellectual disability rare.

ClinVar: 4 PTCs, 0 missense or splice

PMID: 33655927 - patient with FEVR presenting with microcephaly, maternally inherited missense variant

PMID: 29924900 - 1 new patient w/ a PTC and Adams-Oliver syndrome. Reviews literature and summerizes a total of 4 PTCs in patients with disease.
Created: 10 May 2022, 2:05 a.m. | Last Modified: 10 May 2022, 2:05 a.m.
Panel Version: 0.14000

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

Phenotypes
Adams-Oliver syndrome 1, MIM#100300

Publications

Created: 10 May 2022, 2:05 a.m.
Last Modified: 10 May 2022, 2:05 a.m.
Panel version: Imported from Mendeliome panel version 0.14000

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
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • 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

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARHGAP31 was added gene: ARHGAP31 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGAP31 were set to 21565291; 29924900 Phenotypes for gene: ARHGAP31 were set to Adams-Oliver syndrome 1 100300