Cytopenia - NOT Fanconi anaemia

Gene: GP1BB

Amber List (moderate evidence)

GP1BB (glycoprotein Ib platelet beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000203618
EnsemblGeneIds (GRCh37): ENSG00000203618
OMIM: 138720, Gene2Phenotype
GP1BB is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. GMS reviewers also note that mutations are associated with only platelet features not multi-lineage cytopenias.
Created: 1 Feb 2023, 8:15 a.m. | Last Modified: 1 Feb 2023, 8:22 a.m.
Panel Version: 2.3

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This gene should be promoted to Green at the next GMS review. Variants are associated with Bernard-Soulier syndrome characterised by thrombocytopenia (within the scope of this panel), giant platelets and bleeding tendency. Sufficient cases for both inheritance patterns to rate as green with an AD/AR mode of inheritance.
Created: 20 Apr 2022, 1:49 p.m. | Last Modified: 20 Apr 2022, 1:49 p.m.
Panel Version: 1.68
Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic' to align with the MOI set on other panels (Inherited bleeding disorders, Bleeding and platelet disorders). PMID:28064200 provides evidence for AD inheritance of macrothrombocytopenia.
Created: 20 Apr 2022, 1:42 p.m. | Last Modified: 20 Apr 2022, 1:42 p.m.
Panel Version: 1.66

Louise Daugherty (Genomics England Curator)

I don't know

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: Mild macrothrombocytopenia; North West GLH: Mild macrothrombocytopenia; 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert review Amber
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Bernard-Soulier syndrome, type B, OMIM:231200
  • Giant platelet disorder, isolated, OMIM:231200
  • Macrothrombocytopenia
OMIM
138720
Clinvar variants
Variants in GP1BB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 2

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_22_rating was removed from gene: GP1BB.

20 Apr 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GP1BB were set to

20 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gp1bb has been classified as Amber List (Moderate Evidence).

20 Apr 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: GP1BB.

20 Apr 2022, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: GP1BB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Apr 2022, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: GP1BB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GP1BB were changed from Bernard-Soulier syndrome, type B, 231200; Mild macrothrombocytopenia to Bernard-Soulier syndrome, type B, OMIM:231200; Giant platelet disorder, isolated, OMIM:231200; Macrothrombocytopenia

4 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to GP1BB. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Amber was added to GP1BB.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GP1BB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bernard-Soulier syndrome, type B, 231200; Mild macrothrombocytopenia for gene: GP1BB

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GP1BB was added gene: GP1BB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: GP1BB was set to