Cerebellar and Pontocerebellar Hypoplasia
Gene: MAST1EnsemblGeneIds (GRCh38): ENSG00000105613
EnsemblGeneIds (GRCh37): ENSG00000105613
OMIM: 612256, Gene2Phenotype
MAST1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Six unrelated individuals with de novo variants in this gene and a mouse model.
Sources: Expert listCreated: 27 Apr 2020, 11:46 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 Green
- Expert list
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mast1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MAST1 was added gene: MAST1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 30449657 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 GREEN