Cytopenia - NOT Fanconi anaemia
Gene: RBM8A
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:55 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 5:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
274000 Thrombocytopenia-absent radius syndrome
Variants in this GENE are reported as part of current diagnostic practice
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 agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia-absent radius syndrome (TAR); Thrombocytopenia is variable but skeletal abnormalities are always present so I would class red; however already agreed as Amber in July Update October: RBM8A is green on R90 (bleeding & platelet disorders panel), so its covered. Considering this, Id favour Red on R91 for consistency with other syndromic thrombocytopenia associated genes that weve considered for this panel; North West GLH: Syndromic, 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: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.Created: 22 Jul 2019, 12:26 p.m. | Last Modified: 22 Jul 2019, 12:26 p.m.
Panel Version: 0.67
Discrepant reviews for RBM8A. Rated as Green by LSGLH, YNEGLH - Amber rating by NWGLH, no review WWMGLH. To be discussed at July workshop to agree ratingCreated: 22 Jul 2019, 12:25 p.m. | Last Modified: 22 Jul 2019, 12:25 p.m.
Panel Version: 0.66
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5; PMID(s): 22366785; 28128450; 24220582; 17236129Created: 18 Feb 2019, 2:57 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 p.m.
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: RBM8A; 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: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): 17236129; 22366785Created: 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
274000 Thrombocytopenia-absent radius syndrome
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Red was added to RBM8A. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Source Expert review Red was added to RBM8A.
Source Wessex and West Midlands GLH was added to RBM8A.
Gene: rbm8a has been classified as Amber List (Moderate Evidence).
Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5 for gene: RBM8A Publications for gene RBM8A were changed from 22366785; 17236129 to 22366785; 24220582; 28128450; 17236129
Source North West GLH was added to RBM8A.
Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Source Yorkshire and North East GLH was added to RBM8A.
Source Expert Review Green was added to RBM8A. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A Publications for gene RBM8A were changed from to 22366785; 17236129
Source NHS GMS was added to RBM8A.
gene: RBM8A was added gene: RBM8A was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: RBM8A was set to