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  2. Fetal anomalies
  3. ARHGAP31
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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia', 'Clefting', and 'Limb disorders panels with the 'Adams-Oliver syndrome 1, 100300' phenotype. 2 variants reported for MIM:100300 in OMIM from PMID:21565291, plus another case in Meester et al (2018) (PMID:29924900).
Created: 22 Jan 2019, 9:07 a.m.
Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS-OLIVER SYNDROME 1) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Created: 18 Dec 2018, 9:03 p.m.
DDG2P rating in original PAGE list: Probable for ADAMS-OLIVER SYNDROME 1
Created: 11 Dec 2018, 9:04 a.m.

Phenotypes
Adams-Oliver syndrome 1, 100300

Publications

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.161

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS-OLIVER SYNDROME 1
OMIM
610911
Clinvar variants
Variants in ARHGAP31
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

18 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ARHGAP31 was added gene: ARHGAP31 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1