GORAB

golgin, RAB6 interacting
OMIM: 607983, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber GORAB in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.76
Latest signed off version: v2.4 (4 Mar 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Research
    Phenotypes
    • Geroderma osteodysplasticum OMIM:231070
    • geroderma osteodysplastica MONDO:0009271
    Tags
    • Q2_21_phenotype

    Green GORAB 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Geroderma osteodysplasticum 231070

    Amber GORAB in Inborn errors of metabolism


    Version 2.187
    Latest signed off version: v2.3 (17 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 Amber
    Phenotypes
    • Geroderma osteodysplasticum OMIM:231070
    • geroderma osteodysplastica MONDO:0009271
    Tags
    • Q2_21_phenotype

    Green GORAB in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.63
    Latest signed off version: v2.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Other
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Geroderma osteodysplasticum, OMIM:231070

    Green GORAB 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
    • Geroderma osteodysplasticum

    Green GORAB in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • congenital wrinkly skin
    • prematurely aged face
    • extremely short stature
    • osteoporosis leading to recurrent fractures

    Green GORAB 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
    • Geroderma osteodysplasticum

    Red GORAB 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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Geroderma osteodysplasticum

    Green GORAB in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Geroderma osteodysplasticum, 231070