| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebellar and Pontocerebellar Hypoplasia v0.216 | MSL3 | Zornitza Stark Marked gene: MSL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.216 | MSL3 | Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.216 | MSL3 | Zornitza Stark Publications for gene: MSL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.215 | MSL3 | Zornitza Stark reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.215 | MSL3 | Zornitza Stark Marked gene: MSL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.215 | MSL3 | Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.166 | MSL3 | Chirag Patel Classified gene: MSL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.166 | MSL3 | Chirag Patel Gene: msl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.165 | MSL3 |
Chirag Patel gene: MSL3 was added gene: MSL3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome, OMIM # 301032 Review for gene: MSL3 was set to GREEN gene: MSL3 was marked as current diagnostic Added comment: Well established ID gene. 2021 paper expands phenotype to include cerebellar vermis hypoplasia as a consistent MRI finding. Reported 25 individuals with syndrome in paper, but 8 patients had MRI reviewed by expert - 8/8 had cerebellar hypoplasia. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||