Bleeding and platelet disorders

Gene: NBEA

Green List (high evidence)

NBEA (neurobeachin)
EnsemblGeneIds (GRCh38): ENSG00000172915
EnsemblGeneIds (GRCh37): ENSG00000172915
OMIM: 604889, Gene2Phenotype
NBEA is in 7 panels

6 reviews

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Steve Keeney (Central Manchester Foundation Trust)

I don't know

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, 11:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Michael Mitchell (Guy's & St. Thomas' NHS Trust)

I don't know

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 submitted
Created: 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 submitted
Created: 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): 28748566
Created: 5 Feb 2019, 1:26 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • North West GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
for-review
OMIM
604889
Clinvar variants
Variants in NBEA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nbea has been classified as Green List (High Evidence).

14 Jan 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: NBEA.

18 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nbea has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to NBEA.

7 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to NBEA.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NBEA.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

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)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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