Cytopenias and congenital anaemias
Gene: MASTLEnsemblGeneIds (GRCh38): ENSG00000120539
EnsemblGeneIds (GRCh37): ENSG00000120539
OMIM: 608221, Gene2Phenotype
MASTL is in 2 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
severe aplastic anemia
Publications
Helen Brittain (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Thrombocytopenia
- severe aplastic anemia
- OMIM
- 608221
- Clinvar variants
- Variants in MASTL
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MASTL were set to Thrombocytopenia; severe aplastic anemia
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for MASTL were set to 12890928; 21211618; 26136524
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Louise Daugherty (Genomics England Curator)MASTL was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)MASTL was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen