Bleeding and platelet disorders
Gene: NBEAThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 9:41 a.m. | Last Modified: 4 Mar 2022, 9:41 a.m.
Panel Version: 1.33
Comment on list classification: Current Green gene rating based on GMS specialist test group consensus; however, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association and recurrence of heterozygous variants in control populations. Will be flagged for review at the next GMS panel update (added 'for-review' tag).Created: 14 Jan 2021, 11:01 a.m. | Last Modified: 14 Jan 2021, 11:01 a.m.
Panel Version: 1.17
Three individuals reported in PMID 28748566 with little in the way of supportive evidence for pathogenicity. Of the three variants, note that p.Glu395Asp is present in 282 hets in gnomad, and p.Val2784Phe is present in 676 hets. Furthermore, mono allelic variants in this gene have since been associated with a neurodevelopmental phenotype.Created: 15 Aug 2020, 8:28 a.m. | Last Modified: 15 Aug 2020, 8:28 a.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 1:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
N/A
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.Created: 18 Mar 2019, 3:36 p.m.
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: NBEA; Suggested initial 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: Not submitted; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submittedCreated: 7 Feb 2019, 1:28 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: NBEA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): 28748566Created: 5 Feb 2019, 1:26 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: 5 Feb 2019, 11:19 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: NBEA.
Source Expert Review Red was added to NBEA. Rating Changed from Green List (high evidence) to Red List (low evidence)
Gene: nbea has been classified as Green List (High Evidence).
Tag for-review tag was added to gene: NBEA.
Gene: nbea has been classified as Green List (High Evidence).
Source North West GLH was added to NBEA.
Source London South GLH was added to NBEA.
Source NHS GMS was added to NBEA.
Source Expert Review Green was added to NBEA. Mode of inheritance for gene NBEA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene NBEA were changed from to 28748566 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NBEA was added gene: NBEA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: NBEA was set to