Cytopenia - NOT Fanconi anaemia
Gene: TUBB1
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Macrothrombocytopenia, beta-tubulin 1 related; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted;London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
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: TUBB1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613112 Macrothrombocytopenia; PMID(s): 18849486Created: 8 Feb 2019, 1:43 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, 1:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
613112 Macrothrombocytopenia
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to TUBB1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Expert review Amber was added to TUBB1.
Source Wessex and West Midlands GLH was added to TUBB1. Source Yorkshire and North East GLH was added to TUBB1. Source North West GLH was added to TUBB1.
Phenotypes for gene: TUBB1 were changed from 613112 Macrothrombocytopenia to Macrothrombocytopenia, 613112
Gene: tubb1 has been classified as Red List (Low Evidence).
Gene: tubb1 has been classified as Amber List (Moderate Evidence).
Source Expert Review Red was added to TUBB1.
Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1
Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1 Publications for gene TUBB1 were changed from to 18849486
Source NHS GMS was added to TUBB1.
gene: TUBB1 was added gene: TUBB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: TUBB1 was set to