Gene Symbol:
MPL
HGNC:7217
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p34.2
Filters:

Definitive classifications

congenital amegakaryocytic thrombocytopenia
Submitted as: OMIM:604498
AR
12/14/2022
Evaluated
08/19/2023
Submitted
thrombocythemia 2
Submitted as: OMIM:601977
AD
12/14/2022
Evaluated
08/19/2023
Submitted
thrombocythemia 2
AD
07/22/2020
Evaluated
10/18/2023
Submitted
congenital amegakaryocytic thrombocytopenia
AR
07/22/2020
Evaluated
10/18/2023
Submitted

Strong classifications

thrombocythemia 2
Submitted as: OMIM:601977
AD
09/30/2020
Evaluated
03/31/2021
Submitted
thrombocythemia 2
Submitted as: OMIM:601977
AD
04/16/2021
Evaluated
11/30/2023
Submitted
congenital amegakaryocytic thrombocytopenia
Submitted as: OMIM:604498
AR
05/21/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

congenital amegakaryocytic thrombocytopenia
Submitted as: Orphanet:3319
AR
09/14/2021
Evaluated
09/14/2021
Submitted
familial thrombocytosis
Submitted as: Orphanet:71493
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary isolated aplastic anemia
Submitted as: Orphanet:397692
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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