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Proteinuric renal disease

Gene: GIF

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

3 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: CBLIF; Suggested initial gene rating: red; Evidence for inclusion: none provided; Other comments: Unaware of phenotype association with this gene
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GIF is CBLIF
Created: 30 Oct 2018, 11:49 a.m.
Created: 30 Oct 2018, 11:49 a.m.

Panel version: 1.11

Maggie Williams (North Bristol NHS Trust)

Red List (low evidence)

phenotype does not fit
Created: 19 Oct 2015, 2:29 p.m.
Created: 19 Oct 2015, 2:29 p.m.

Panel version: 0

Details

Sources
  • NHS GMS
  • Expert Review Red
  • Imerslund-Grasbeck syndrome eligibility statement prior genetic testing
Phenotypes
  • GIF mutations may phenocopy this disorder
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
new-gene-name
OMIM
609342
Clinvar variants
Variants in GIF
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GIF.

30 Oct 2018, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GIF was added to Proteinuric renal diseasepanel. Sources: Imerslund-Grasbeck syndrome eligibility statement prior genetic testing