GIF

gastric intrinsic factor
OMIM: 609342, Gene2Phenotype

6 panels

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

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

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


Level 2: Haematology
Version 3.19
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
Green GIF in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Intrinsic factor deficiency 261000
Tags
  • new-gene-name
Green GIF in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • 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


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    • Expert Review Red
    • London North GLH