Cytopenia - NOT Fanconi anaemia

Gene: GP9

Amber List (moderate evidence)

GP9 (glycoprotein IX platelet)
EnsemblGeneIds (GRCh38): ENSG00000169704
EnsemblGeneIds (GRCh37): ENSG00000169704
OMIM: 173515, Gene2Phenotype
GP9 is in 4 panels

1 review

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: Bernard-Soulier syndrome (includes macrothrombocytopenia); North West GLH: 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

Details

Mode of Inheritance
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 (includes macrothrombocytopenia)
  • Bernard-Soulier syndrome, type C, 231200
OMIM
173515
Clinvar variants
Variants in GP9
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to GP9. 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 GP9.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GP9 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bernard-Soulier syndrome (includes macrothrombocytopenia); Bernard-Soulier syndrome, type C, 231200 for gene: GP9

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GP9 was added gene: GP9 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: GP9 was set to