Bone Marrow Failure
Gene: MPL
Loss of function and gain of function are known mechanisms of disease in this gene and are associated with autosomal recessive congenital amegakaryocytic thrombocytopenia (CAMT) (MIM# 604498) and autosomal dominant thrombocythemia 2 (MIM#601977), respectively (PMIDs: 28955303, 26423830).Created: 24 Jul 2020, 2:27 a.m. | Last Modified: 24 Jul 2020, 2:27 a.m.
Panel Version: 0.71
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myelofibrosis with myeloid metaplasia, somatic, MIM#254450; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Publications
Phenotypes for gene: MPL were changed from Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR to Myelofibrosis with myeloid metaplasia, somatic, MIM#254450; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Gene: mpl has been classified as Green List (High Evidence).
Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Publications for gene: MPL were set to
Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: MPL was added gene: MPL was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MPL was set to Unknown