| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Polymicrogyria and Schizencephaly v0.152 | MAST1 | Zornitza Stark Marked gene: MAST1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.152 | MAST1 | Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.152 | MAST1 | Zornitza Stark Phenotypes for gene: MAST1 were changed from OMIM#618273 to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.151 | MAST1 | Zornitza Stark Classified gene: MAST1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.151 | MAST1 | Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.150 | MAST1 | Zornitza Stark reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.146 | MAST1 |
Chloe Stutterd 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 Added comment: Tripathy et al. (PMID:30449657) describe cortical malformation as dysgyria but images consistent with PMG. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||