GP1BB:Ensemblv90

glycoprotein Ib platelet beta subunit
OMIM: 138720, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green GP1BB in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.63	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome, type B, MIM# 231200 Macrothrombocytopaenia
Green GP1BB in Mendeliome Version 1.3802	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome, type B, MIM# 231200 Macrothrombocytopaenia
Green GP1BB in IBMDx study Version 0.38	1 review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome (BSS)
Green GP1BB in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrothrombocytopaenia Bernard-Soulier syndrome, type B, MIM# 231200
Green GP1BB in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Bernard-Soulier syndrome, type B, MIM# 231200 Macrothrombocytopaenia
Green GP1BB in IBMDx study Version 1.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green IBMDx Study Expert Review Green Phenotypes Bernard-Soulier syndrome (BSS)
Green GP1BB in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Macrothrombocytopaenia Bernard-Soulier syndrome, type B, MIM# 231200