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  2. Bone Marrow Failure
  3. MASTL
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Bone Marrow Failure

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported in the literature with a missense variant in this gene and thrombocytopaenia. Also single individual with aplastic anaemia. Supporting evidence from zebrafish.
Created: 19 Nov 2019, 8:08 a.m. | Last Modified: 19 Nov 2019, 8:08 a.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopaenia; Aplastic anaemia

Publications

Created: 19 Nov 2019, 8:08 a.m.
Last Modified: 19 Nov 2019, 8:08 a.m.
Panel version: 0.2

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
OMIM
608221
Clinvar variants
Variants in MASTL
Penetrance
None
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mastl has been classified as Amber List (Moderate Evidence).

19 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mastl has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MASTL was added gene: MASTL was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MASTL was set to Unknown