Cytopenia - NOT Fanconi anaemia
Gene: GP1BBEnsemblGeneIds (GRCh38): ENSG00000203618
EnsemblGeneIds (GRCh37): ENSG00000203618
OMIM: 138720, Gene2Phenotype
GP1BB is in 3 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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)
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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_22_rating was removed from gene: GP1BB.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GP1BB were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: gp1bb has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_22_rating tag was added to gene: GP1BB.
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
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
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
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)
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Amber was added to GP1BB.
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
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