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Fetal anomalies

Gene: MAST1

Green List (high evidence)
MAST1 (microtubule associated serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000105613
EnsemblGeneIds (GRCh37): ENSG00000105613
OMIM: 612256, Gene2Phenotype
MAST1 is in 4 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Only one fetal case but multiple postnatal with a variety of brain anomalies that would be seen in utero
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Green in severe Paediatric disorders; Emerging syndrome - Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; reported in a number of patients. Assessed to have strong gene-disease association but not yet recognised ClinGen gene/disease. PMID:32818970;32198973;3172102;30449657. Notes in ID panel (green). Amber - need more reports of prenatal phenotype.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • cortical malformations
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827
  • cerebellar hypoplasia
  • corpus callosum anomalies
OMIM
612256
Clinvar variants
Variants in MAST1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273 for gene: MAST1

9 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MAST1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MAST1 was added gene: MAST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657 Phenotypes for gene: MAST1 were set to cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827