| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Lissencephaly and Band Heterotopia v0.65 | DCHS1 | Seb Lunke Marked gene: DCHS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.65 | DCHS1 | Seb Lunke Gene: dchs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.65 | DCHS1 | Seb Lunke Classified gene: DCHS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.65 | DCHS1 | Seb Lunke Gene: dchs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.60 | DCHS1 |
Ain Roesley gene: DCHS1 was added gene: DCHS1 was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCHS1 were set to 27262615; 22473091 Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1 (MIM#601390) Penetrance for gene: DCHS1 were set to unknown Review for gene: DCHS1 was set to GREEN Added comment: PMID: 27262615; - cohort of 26x periventricular band heterotopias however 2x had additional phenotype of pachygyria - 2nd cohort of 10x band heterotopias PMID: 22473091; - 1x patient with localised areas of cortical thickening and gyral simplification Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||