GIF

gastric intrinsic factor
OMIM: 609342, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red GIF in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Imerslund-Grasbeck syndrome eligibility statement prior genetic testing
    Phenotypes
    • GIF mutations may phenocopy this disorder
    • (originally on the Imerslund-Grasbeck syndrome gene panel)
    Tags
    • new-gene-name
    Green GIF in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    Phenotypes
    • 261000 Intrinsic factor deficiency
    Tags
    • new-gene-name
    Red GIF in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • GIF mutations may phenocopy this disorder
    • (originally on the Imerslund-Grasbeck syndrome gene panel)
    Tags
    • new-gene-name
    Green GIF in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Intrinsic factor deficiency 261000
    Tags
    • new-gene-name
    Green GIF in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Intrinsic factor deficiency
    Tags
    • new-gene-name
    Red GIF in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Imerslund-Grasbeck syndrome eligibility statement prior genetic testing
    Phenotypes
    • GIF mutations may phenocopy this disorder
    • (originally on the Imerslund-Grasbeck syndrome gene panel)
    Tags
    • new-gene-name
    Red GIF in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    • Expert Review Red
    • London North GLH
    Green GIF in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intrinsic factor deficiency, 261000
    Tags
    • new-gene-name