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  2. Early onset or syndromic epilepsy
  3. MAST4
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Early onset or syndromic epilepsy

Gene: MAST4

Green List (high evidence)
MAST4 (microtubule associated serine/threonine kinase family member 4)
EnsemblGeneIds (GRCh38): ENSG00000069020
EnsemblGeneIds (GRCh37): ENSG00000069020
MAST4 is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:21 p.m.
Panel Version: 5.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 2 May 2024, 1:13 p.m.
Last Modified: 6 May 2024, 9:21 p.m.
Panel version: 5.6

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

MAST4 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO to date. PMID: 36910266 reports three de novo heterozygous MAST4 missense variants in four unrelated cases, with a neurodevelopmental disorder, including cognitive delay/intellectual disability and PMID: 33057194 reports four heterozygous MAST4 missense variants in four unrelated cases and a terminating variant in an additional case, from a cohort of 31,058 parent-offspring trios of individuals with developmental disorders. Between these two publications there are five missense MAST4 variants and one terminating variant. Variant c.4412C>T (p.Thr1471Ile) was seen in three unrelated cases.
Created: 2 Nov 2023, 3:04 p.m. | Last Modified: 2 Nov 2023, 3:04 p.m.
Panel Version: 5.328
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 2 Nov 2023, 1:59 p.m. | Last Modified: 2 Nov 2023, 1:59 p.m.
Panel Version: 5.328
Created: 2 Nov 2023, 1:59 p.m.
Last Modified: 2 Nov 2023, 1:59 p.m.
Copied from panel: Intellectual disability - microarray and sequencing v5.337

Zornitza Stark (Australian Genomics)

Green List (high evidence)

9 individuals with de novo missense variants and ID reported altogether.

PMID: 36910266 - 4 affecteds from unrelated families, all de novo missense

2x borderline microcephaly (-2SD)
2x gross motor delay
2x dysmorphism
4x ID + seizures
3x abnormal brain MRI findings

PMID: 33057194 - 5x de novos, 4x missense + 1x PTC
Cohort of individuals with severe developmental disorder
individual phenotypic information not provided


Recurrent variants are Thr1471Ile (3x) and Ser1181Phe)
Sources: Literature
Created: 21 Oct 2023, 6:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, MAST4-related

Publications

Created: 21 Oct 2023, 6:56 a.m.

Copied from panel: Intellectual disability - microarray and sequencing v5.337

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, MAST4-related
Tags
gene-checked
Clinvar variants
Variants in MAST4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2024, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: MAST4.

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: MAST4.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to MAST4. Source Expert Review Green was added to MAST4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Nov 2023, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: MAST4 was added gene: MAST4 was added to Early onset or syndromic epilepsy. Sources: Literature,Expert Review Amber Q4_23_promote_green tags were added to gene: MAST4. Mode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST4 were set to 36910266; 33057194 Phenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related