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  2. Polymicrogyria and Schizencephaly
  3. MAST1
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Polymicrogyria and Schizencephaly

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 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273

Created: 6 Oct 2020, 2:37 a.m.
Last Modified: 6 Oct 2020, 2:37 a.m.
Panel version: 0.150

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

Tripathy et al. (PMID:30449657) describe cortical malformation as dysgyria but images consistent with PMG.
Sources: Literature
Created: 5 Oct 2020, 11:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
OMIM#618273

Publications

Created: 5 Oct 2020, 11:53 p.m.

Panel version: 0.146

Details

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

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mast1 has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAST1 were changed from OMIM#618273 to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mast1 has been classified as Green List (High Evidence).

5 Oct 2020, Gel status: 0

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

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: MAST1 was added gene: MAST1 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 32818970; 30449657 Phenotypes for gene: MAST1 were set to OMIM#618273 Review for gene: MAST1 was set to GREEN