Rare anaemia
Gene: GIF
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should Green.Created: 22 Jul 2019, 3:35 p.m. | Last Modified: 22 Jul 2019, 3:35 p.m.
Panel Version: 0.57
New approved HGNC gene symbol for GIF is CBLIFCreated: 8 Feb 2019, 4:15 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CBLIF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261000 Intrinsic factor deficiency; PMID(s): 14576042; 15738392Created: 8 Feb 2019, 3:49 p.m.
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 3:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
261000 Intrinsic factor deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: gif has been classified as Green List (High Evidence).
Gene: gif has been classified as Red List (Low Evidence).
Tag new-gene-name tag was added to gene: GIF.
Source Expert Review Green was added to GIF. Mode of inheritance for gene GIF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF Rating Changed from Red List (low evidence) to Green List (high evidence)
Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF Publications for gene GIF were changed from to 14576042; 15738392
Source NHS GMS was added to GIF.
gene: GIF was added gene: GIF was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: GIF was set to