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Vitamin metabolism disorders

Gene: GIF

Green List (high evidence)
GIF (gastric intrinsic factor)
EnsemblGeneIds (GRCh38): ENSG00000134812
EnsemblGeneIds (GRCh37): ENSG00000134812
OMIM: 609342, Gene2Phenotype
GIF is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Intrinsic factor deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Created: 4 Feb 2021, 4:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Feb 2021, 4:39 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.158

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intrinsic factor deficiency MIM#261000
  • Disorders of cobalamin absorption, transport and metabolism
Tags
new gene name
OMIM
609342
Clinvar variants
Variants in GIF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gif has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gif has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GIF was added gene: GIF was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature new gene name tags were added to gene: GIF. Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIF were set to 27604308; 14695536; 14576042 Phenotypes for gene: GIF were set to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism Review for gene: GIF was set to GREEN gene: GIF was marked as current diagnostic