DDG2P
Gene: MAST3

MAST3 (microtubule associated serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000099308
EnsemblGeneIds (GRCh37): ENSG00000099308
OMIM: 612258, Gene2Phenotype
MAST3 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease MAST3-related developmental and epileptic encephalopathy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34185323;35095415).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MAST3-related developmental and epileptic encephalopathy

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MAST3-related developmental and epileptic encephalopathy

Tags

de novo

OMIM

612258

Clinvar variants

Variants in MAST3

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: MAST3.

26 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MAST3 was added gene: MAST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAST3 were set to 34185323; 35095415 Phenotypes for gene: MAST3 were set to MAST3-related developmental and epileptic encephalopathy Mode of pathogenicity for gene: MAST3 was set to Other

DDG2P Gene: MAST3