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Red cell 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 7 Sep 2021, 4:32 a.m. | Last Modified: 7 Sep 2021, 4:32 a.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intrinsic factor deficiency, MIM# 261000

Publications

Created: 7 Sep 2021, 4:32 a.m.
Last Modified: 7 Sep 2021, 4:32 a.m.
Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Intrinsic factor deficiency, MIM# 261000
OMIM
609342
Clinvar variants
Variants in GIF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2021, 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).

7 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GIF were changed from 261000 Intrinsic factor deficiency to Intrinsic factor deficiency, MIM# 261000

7 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GIF were set to 15738392; 14576042

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GIF was added gene: GIF was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIF were set to 15738392; 14576042 Phenotypes for gene: GIF were set to 261000 Intrinsic factor deficiency