Cytopenia - NOT Fanconi anaemia

Gene: MASTL

Amber List (moderate evidence)

MASTL (microtubule associated serine/threonine kinase like)
EnsemblGeneIds (GRCh38): ENSG00000120539
EnsemblGeneIds (GRCh37): ENSG00000120539
OMIM: 608221, Gene2Phenotype
MASTL is in 2 panels

3 reviews

Frances Smith (King's College Hospital)

Red List (low evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:36 p.m.

Mode of inheritance
Unknown

Phenotypes
Thrombocytopenia

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MASTL; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thrombocytopenia; PMID(s): 10891439; 22102272; 26136524
Created: 8 Feb 2019, 1:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MASTL; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Thrombocytopenia;severe aplastic anemia; PMID(s): 12890928;21211618;26136524
Created: 6 Feb 2019, 3:13 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 3:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • severe aplastic anemia
  • Thrombocytopenia
OMIM
608221
Clinvar variants
Variants in MASTL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2019, Gel status: 2

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Thrombocytopenia for gene: MASTL Publications for gene MASTL were changed from 12890928; 26136524; 21211618 to 10891439; 26136524; 22102272

8 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MASTL.

6 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MASTL.

6 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to MASTL. Mode of inheritance for gene MASTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes severe aplastic anemia; Thrombocytopenia for gene: MASTL Publications for gene MASTL were changed from to 12890928; 26136524; 21211618 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MASTL was added gene: MASTL was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MASTL was set to