Limb disorders
Gene: ARHGAP31PMID: 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.
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.
Tier 2Created: 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
Ana Beleza: Tier 2
Publications for gene: ARHGAP31 were set to 21565291
Phenotypes for ARHGAP31 were set to Adams-Oliver syndrome 1, 100300
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']
London South East RGC GSTT was added to ARHGAP31. Panel: Limb disorders
ARHGAP31 was added to Limb disorders panel. Sources: Viapath
ARHGAP31 was created by Ellen McDonagh