Cytopenia - NOT Fanconi anaemia
Gene: NBEAL2
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: Gray platelet syndrome; associated with low platelet count; 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
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 Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panelCreated: 22 Jul 2019, 2:20 p.m. | Last Modified: 22 Jul 2019, 2:22 p.m.
Panel Version: 0.112
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: NBEAL2; 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: 139090 Gray platelet syndrome; PMID(s): 20709904Created: 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
139090 Gray platelet syndrome
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to NBEAL2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Expert review Amber was added to NBEAL2.
Source Wessex and West Midlands GLH was added to NBEAL2. Source Yorkshire and North East GLH was added to NBEAL2. Source North West GLH was added to NBEAL2.
Phenotypes for gene: NBEAL2 were changed from 139090 Gray platelet syndrome to Gray platelet syndrome, 139090
Gene: nbeal2 has been classified as Red List (Low Evidence).
Source Expert Review Green was added to NBEAL2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2 Publications for gene NBEAL2 were changed from to 20709904
Source NHS GMS was added to NBEAL2.
gene: NBEAL2 was added gene: NBEAL2 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: NBEAL2 was set to