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Intellectual disability syndromic and non-syndromic

Gene: MAST3

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England)

Green List (high evidence)

PMID: 35095415 reports an additional four MAST3 variants in patients with developmental and epileptic encephalopathy. These variants (NM_015016.1: c.302C > T:p.Ser101Phe; c.311C > T:p.Ser104Leu; c.1543G > A:p.Gly515Ser; and c.1547T > C:p.Leu516Pro) are in the domain of unknown function (DUF) in MAST3. It would appear that the variants within the STK domain are associated with a neurodevelopmental disorder with a epilepsy phenotype, while variants within the DUF domain have a autistic spectrum disorder phenotype (PMID: 35095415).
Created: 7 May 2024, 1:31 p.m. | Last Modified: 7 May 2024, 1:31 p.m.
Panel Version: 0.5797

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Eleven individuals reported with de novo missense variants in the STK domain, including two recurrent variants p.G510S (n = 5) and p.G515S (n = 3). All 11 individuals had developmental and epileptic encephalopathy, with 8 having normal development prior to seizure onset at <2 years of age. All patients developed multiple seizure types, 9 of 11 patients had seizures triggered by fever and 9 of 11 patients had drug-resistant seizures. Limited functional data.
Sources: Literature
Created: 7 Aug 2021, 2:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 108, MIM#620115

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 108, MIM#620115
OMIM
612258
Clinvar variants
Variants in MAST3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAST3 were set to 34185323

12 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115

7 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mast3 has been classified as Green List (High Evidence).

7 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mast3 has been classified as Green List (High Evidence).

7 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAST3 was added gene: MAST3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST3 were set to 34185323 Phenotypes for gene: MAST3 were set to Developmental and epileptic encephalopathy Review for gene: MAST3 was set to GREEN