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Newborns main panel

Gene: GP1BA

Green List (high evidence)
GP1BA (glycoprotein Ib platelet alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000185245
EnsemblGeneIds (GRCh37): ENSG00000185245
OMIM: 606672, Gene2Phenotype
GP1BA is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Prone to artefacts.

Additional Information: A small region of this gene is prone to technical artefacts due to low coverage and/or bad quality alignments.
Created: 26 Sep 2024, 3:26 p.m. | Last Modified: 26 Sep 2024, 3:26 p.m.
Panel Version: 0.469
Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Platelet Disorders Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50040/
Created: 26 Sep 2024, 3:26 p.m. | Last Modified: 26 Sep 2024, 3:26 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:26 p.m.
Last Modified: 26 Sep 2024, 3:26 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 10 Oct 2023, 2:47 p.m. | Last Modified: 10 Oct 2023, 2:47 p.m.
Panel Version: 0.247
GP1BA curation results (clinicalgenome.org)
Created: 14 Sep 2023, 11:02 a.m. | Last Modified: 14 Sep 2023, 11:02 a.m.
Panel Version: 0.238
Created: 14 Sep 2023, 11:02 a.m.
Last Modified: 14 Sep 2023, 11:02 a.m.
Panel version: 0.247

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bernard-Soulier syndrome, type A1 (recessive)
Tags
special_consideration
OMIM
606672
Clinvar variants
Variants in GP1BA
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: GP1BA.

14 Sep 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: GP1BA was added gene: GP1BA was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: GP1BA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GP1BA were set to Bernard-Soulier syndrome, type A1 (recessive)