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 3.4
Latest signed off version: v3.3 (23 Jun 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Martsolf syndrome 1, OMIM:212720
  • Warburg micro syndrome 2, OMIM:614225

Amber RAB3GAP2 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.2
Latest signed off version: v3.1 (23 Jun 2022)

Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Warburg micro syndrome 2, OMIM:614225
    • Warburg micro syndrome 2 MONDO:0013641
    Tags
    • Q4_21_rating

    Red RAB3GAP2 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.77

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • South West GLH
    • Wessex and West Midlands GLH
    • Expert Review
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720
    • Warburg micro syndrome 2, OMIM:614225

    Green RAB3GAP2 in Corneal abnormalities

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • GDL Corneal Abnormalities panel
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720
    • Warburg micro syndrome 2, OMIM:614225

    Red RAB3GAP2 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.289

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720
    • Warburg micro syndrome 2, OMIM:614225

    Red RAB3GAP2 in Hereditary spastic paraplegia - childhood onset


    Version 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    • Literature
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720

    Red RAB3GAP2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720

    Red RAB3GAP2 in Hereditary spastic paraplegia - adult onset


    Version 2.2
    Latest signed off version: v2.1 (23 Jun 2022)

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

    Red RAB3GAP2 in Neurodegenerative disorders - adult onset


    Version 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720

    Green RAB3GAP2 in Fetal anomalies


    Version 2.5
    Latest signed off version: v2.4 (30 Jun 2022)

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

    Green RAB3GAP2 in DDG2P


    Version 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    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 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720
    • Warburg micro syndrome 2, OMIM:614225

    Amber RAB3GAP2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.2
    Latest signed off version: v3.1 (23 Jun 2022)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720
    • Warburg micro syndrome 2, OMIM:614225

    Green RAB3GAP2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.5
    Latest signed off version: v4.4 (23 Jun 2022)

    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 1, OMIM:212720
    • Warburg micro syndrome 2, OMIM:614225

    Green RAB3GAP2 in Structural eye disease


    Version 2.2
    Latest signed off version: v2.1 (23 Jun 2022)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Martsolf syndrome 1, OMIM:212720
    • Warburg micro syndrome 2, OMIM:614225

    Green RAB3GAP2 in Severe Paediatric Disorders


    Version 1.117

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