Rare anaemia
Gene: FTCD
Comment on list classification: 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 be downgraded from Green to RedCreated: 22 Jul 2019, 3:34 p.m. | Last Modified: 22 Jul 2019, 3:34 p.m.
Panel Version: 0.55
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: FTCD; 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: 229100 Glutamate formiminotransferase deficiency; PMID(s): 12815595Created: 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
229100 Glutamate formiminotransferase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: ftcd has been classified as Red List (Low Evidence).
Source Expert Review Green was added to FTCD. Mode of inheritance for gene FTCD was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD Rating Changed from Red List (low evidence) to Green List (high evidence)
Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD Publications for gene FTCD were changed from to 12815595
Source NHS GMS was added to FTCD.
gene: FTCD was added gene: FTCD was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: FTCD was set to