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  3. MASTL
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Early onset pancytopenia and red cell disorders

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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Thrombocytopenia
OMIM
608221
Clinvar variants
Variants in MASTL
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MASTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MASTL was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MASTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MASTL was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

25 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MASTL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MASTL was added to Early onset pancytopenia and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

25 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MASTL was added to Early onset pancytopenia and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen