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Mendeliome

Gene: GIF

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: New HGNC approved name is CBLIF.
Created: 18 Sep 2022, 9:22 p.m. | Last Modified: 18 Sep 2022, 9:22 p.m.
Panel Version: 1.333

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
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

18 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: GIF.

20 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GIF were changed from to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism

20 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GIF were set to

20 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GIF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GIF was added gene: GIF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GIF was set to Unknown