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Inborn errors of metabolism

Gene: GIF

Green List (high evidence)

GIF (gastric intrinsic factor)
EnsemblGeneIds (GRCh38): ENSG00000134812
EnsemblGeneIds (GRCh37): ENSG00000134812
OMIM: 609342, Gene2Phenotype
GIF is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GIF is CBLIF
Created: 9 May 2019, 3:34 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 6 variants reported in at least 7 cases
Created: 19 Jan 2017, 1:19 p.m.

Details

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

History Filter Activity

9 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GIF. Source London North GLH was added to GIF.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GIF was added gene: GIF was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIF were set to 27604308 Phenotypes for gene: GIF were set to Intrinsic factor deficiency