GORAB

golgin, RAB6 interacting
OMIM: 607983, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Amber GORAB in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Geroderma osteodysplasticum MIM#231070

Green GORAB in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Geroderma osteodysplasticum MIM#231070

    Green GORAB in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Geroderma osteodysplasticum, MIM#231070

    Green GORAB in Osteogenesis Imperfecta and Osteoporosis


    Level 2: Skeletal disorders
    Version 0.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Geroderma osteodysplasticum, MIM# 231070

    Amber GORAB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Geroderma osteodysplasticum, MIM#231070

    Green GORAB in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Emory Genetics Laboratory
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Geroderma osteodysplasticum 231070

    Green GORAB in Cutis Laxa


    Level 2: Dermatological disorders
    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • GeneReviews
    Phenotypes
    • Geroderma osteodysplasticum MIM#231070

    Green GORAB 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
    • Geroderma osteodysplasticum, 231070 (3)

    Green GORAB in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • Geroderma osteodysplasticum MIM#231070

    Green GORAB in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Geroderma osteodysplasticum, 231070 (3)

    Green GORAB in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Geroderma osteodysplasticum, MIM# 231070

    Green GORAB in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Geroderma osteodysplasticum, 231070 (3)