Cerebral Palsy
Gene: MAST1EnsemblGeneIds (GRCh38): ENSG00000105613
EnsemblGeneIds (GRCh37): ENSG00000105613
OMIM: 612256, Gene2Phenotype
MAST1 is in 8 panels
1 review
Luisa Weiss (University of Adelaide)
Two large CP cohorts, one with one likely pathogenic de novo mutation and two VUS, one of them inherited paternally. The other cohort showed one more case with a de novo missense mutation predicted to be pathogenic. Note that no information is given on the MRI phenotype in these cohorts, so it might be a phenotypic overlap with MIM#618273.
Sources: LiteratureCreated: 19 Jun 2023, 1:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MIM#618273
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mast1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mast1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: MAST1 was added gene: MAST1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 31700678; 25666757 Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MIM#618273 Review for gene: MAST1 was set to AMBER