Cytopenia - NOT Fanconi anaemia
Gene: MASTL
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, 1:36 p.m.
Mode of inheritance
Unknown
Phenotypes
Thrombocytopenia
Variants in this GENE are reported as part of current diagnostic practice
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: MASTL; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thrombocytopenia; PMID(s): 10891439; 22102272; 26136524Created: 8 Feb 2019, 1:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MASTL; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Thrombocytopenia;severe aplastic anemia; PMID(s): 12890928;21211618;26136524Created: 6 Feb 2019, 3:13 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 3:12 p.m.
Added phenotypes Thrombocytopenia for gene: MASTL Publications for gene MASTL were changed from 12890928; 26136524; 21211618 to 10891439; 26136524; 22102272
Source London South GLH was added to MASTL.
Source NHS GMS was added to MASTL.
Source Expert Review Amber was added to MASTL. Mode of inheritance for gene MASTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes severe aplastic anemia; Thrombocytopenia for gene: MASTL Publications for gene MASTL were changed from to 12890928; 26136524; 21211618 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: MASTL was added gene: MASTL was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MASTL was set to