RAB3GAP2

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

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green RAB3GAP2 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.85
Latest signed off version: v2.76 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Martsolf syndrome
  • Warburg micro syndrome 2
  • Warburg Micro syndrome-2

No list RAB3GAP2 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.92
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Warburg micro syndrome 2, MIM# 614225

    Red RAB3GAP2 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.70

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • South West GLH
    • Wessex and West Midlands GLH
    • Expert Review
    Phenotypes
    • 212720
    • 614225

    Green RAB3GAP2 in Corneal abnormalities

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • GDL Corneal Abnormalities panel
    Phenotypes
    • Martsolf syndrome 212720
    • Warburg micro syndrome 2 614225

    Red RAB3GAP2 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.259

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • spastic paraplegia
    • Warburg micro syndrome 2, 614225

    Red RAB3GAP2 in Hereditary spastic paraplegia - childhood onset


    Version 2.84
    Latest signed off version: v2.18 (8 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    • Literature
    Phenotypes
    • spastic paraplegia

    Red RAB3GAP2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.137
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    Phenotypes
    • Martsolf syndrome

    Red RAB3GAP2 in Hereditary spastic paraplegia - adult onset


    Version 1.73
    Latest signed off version: v1.27 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • South West GLH
    Phenotypes
    • spastic paraplegia
    • Warburg micro syndrome 2, 614225

    Red RAB3GAP2 in Neurodegenerative disorders - adult onset


    Version 2.200
    Latest signed off version: v2.178 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • spastic paraplegia

    Green RAB3GAP2 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MARTSOLF SYNDROME

    Green RAB3GAP2 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MARTSOLF SYNDROME 212720

    Green RAB3GAP2 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.42

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Warburg Micro Syndrome
    • Martsolf syndrome, 212720Warburg micro syndrome 2, 614225

    Amber RAB3GAP2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services

    Green RAB3GAP2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Martsolf syndrome, 212720Warburg micro syndrome 2, 614225
    • MARTSOLF SYNDROME (MARTS)

    Green RAB3GAP2 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Martsolf syndrome, 212720
    • Warburg micro syndrome 2, 614225
    • Martsolf syndrome, 212720Warburg micro syndrome 2, 614225
    • Warburg Micro Syndrome

    Green RAB3GAP2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Warburg micro syndrome 2, 614225
    • Martsolf syndrome, 212720