ARHGAP31

Rho GTPase activating protein 31
OMIM: 610911, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ARHGAP31 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 1, MIM#100300
Green ARHGAP31 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Genetic Health Queensland Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Amber ARHGAP31 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Adams-Oliver syndrome 1, MIM#100300
Green ARHGAP31 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	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
Red ARHGAP31 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Syndromic cutis aplasia & limb anomalies
Green ARHGAP31 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes AOS1 ADAMS-OLIVER SYNDROME 1
Green ARHGAP31 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	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
Green ARHGAP31 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Adams-Oliver syndrome 1, MIM#100300
Red ARHGAP31 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Syndromic cutis aplasia & limb anomalies