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Newborns main panel

Gene: GIF

Green List (high evidence)
GIF (gastric intrinsic factor)
EnsemblGeneIds (GRCh38): ENSG00000134812
EnsemblGeneIds (GRCh37): ENSG00000134812
OMIM: 609342, Gene2Phenotype
GIF is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GIF is CBLIF
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 15738392 - 7 families PMID: 33172407 - 1 case + table of pathogenic variants reported in literature. PMID: 25308559 - 1 case, PMID: 14576042 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intrinsic factor deficiency
Tags
new-gene-name
OMIM
609342
Clinvar variants
Variants in GIF
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

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

25 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: GIF. Tag CBLIF was removed from gene: GIF.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Intrinsic factor deficiency for gene: GIF

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Intrinsic factor deficiency for gene: GIF

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Intrinsic factor deficiency for gene: GIF

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GIF. Added phenotypes Intrinsic factor deficiency for gene: GIF Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: GIF. Tag CBLIF tag was added to gene: GIF.

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Intrinsic factor deficiency for gene: GIF

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GIF was added gene: GIF was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal