RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2
OMIM: 609275, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green RAB3GAP2 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.195 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Warburg micro syndrome 2 614225
Green RAB3GAP2 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225
Green RAB3GAP2 in Cataract Level 2: Ophthalmological disorders Version 0.373	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225
Green RAB3GAP2 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225
Green RAB3GAP2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225
Amber RAB3GAP2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Martsolf syndrome, MIM#212720 Warburg micro syndrome 2, MIM#614225
Green RAB3GAP2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RAB3GAP2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Martsolf syndrome (MIM212720) Warburg micro syndrome 2 (MIM#614225)
Green RAB3GAP2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Martsolf syndrome 1 MIM#212720
Green RAB3GAP2 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.87 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Martsolf syndrome 212720
Green RAB3GAP2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome 2, 614225 (3)
Green RAB3GAP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Warburg micro syndrome 2, MIM# 614225
Green RAB3GAP2 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225
Green RAB3GAP2 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome MONDO:0016649
Red RAB3GAP2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Warburg micro syndrome 2, MIM# 614225
Green RAB3GAP2 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome 2, 614225 (3)