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  2. Bleeding and Platelet Disorders
  3. MPIG6B
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Bleeding and Platelet Disorders

Gene: MPIG6B

Green List (high evidence)
MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)
EnsemblGeneIds (GRCh38): ENSG00000204420
EnsemblGeneIds (GRCh37): ENSG00000204420
OMIM: 606520, Gene2Phenotype
MPIG6B is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six families reported.
Sources: Expert list
Created: 15 Aug 2020, 7:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441

Publications

Created: 15 Aug 2020, 7:16 a.m.

Panel version: 0.117

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
OMIM
606520
Clinvar variants
Variants in MPIG6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpig6b has been classified as Green List (High Evidence).

15 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpig6b has been classified as Green List (High Evidence).

15 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPIG6B was added gene: MPIG6B was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPIG6B were set to 31276734; 29898956; 27743390 Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 Review for gene: MPIG6B was set to GREEN