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Severe Paediatric Disorders

Gene: GP1BA

Green List (high evidence)

GP1BA (glycoprotein Ib platelet alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000185245
EnsemblGeneIds (GRCh37): ENSG00000185245
OMIM: 606672, Gene2Phenotype
GP1BA is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GP1BA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), 231200 (3) | Bernard-Soulier syndrome, type A2 (dominant), 153670 (3) | von Willebrand disease, platelet-type, 177820 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Bernard-Soulier syndrome, type A2 (dominant), 153670
  • Bernard-Soulier syndrome, type A1 (recessive), 231200
  • von Willebrand disease, platelet-type, 177820
OMIM
606672
Clinvar variants
Variants in GP1BA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GP1BA wa