Cytopenias and congenital anaemias
Gene: MASTL
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
severe aplastic anemia
Publications
Comment when marking as ready: Insufficient evidence of causationCreated: 28 Feb 2017, 1:49 p.m.
Comment on list classification: No clear evidence of causation at presentCreated: 28 Feb 2017, 1:48 p.m.
No clear evidence of an associated phenotype and not linked with a phenotype in OMIM. One report of a family with AD thrombocytopaenia (12890928) linked to 10p, however 21211618 identified an alternative causal gene (ANKRD26) in 9/20 families mapping here and no MASTL mutations.
One report in a large cohort of aplastic anaemia cases but only a single patient with a missense mutation identified (26136524). Red at present.Created: 28 Feb 2017, 11:25 a.m.
Mode of inheritance
Unknown
Publications
Phenotypes for MASTL were set to Thrombocytopenia; severe aplastic anemia
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Publications for MASTL were set to 12890928; 21211618; 26136524
This gene has been classified as Red List (Low Evidence).
MASTL was created by LouiseD
MASTL was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen