Rare anaemia
Gene: UMPS
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 GreenCreated: 22 Jul 2019, 3:36 p.m. | Last Modified: 22 Jul 2019, 3:36 p.m.
Panel Version: 0.58
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: UMPS; 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: 258900 Orotic aciduria with megaloblastic anaemia; PMID(s): 9042911Created: 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
258900 Orotic aciduria with megaloblastic anaemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: umps has been classified as Green List (High Evidence).
Source Expert Review Green was added to UMPS. Mode of inheritance for gene UMPS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS Rating Changed from Red List (low evidence) to Green List (high evidence)
Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS Publications for gene UMPS were changed from to 9042911
Source NHS GMS was added to UMPS.
gene: UMPS was added gene: UMPS was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: UMPS was set to