| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Callosome v0.532 | PSMF1 | Zornitza Stark Marked gene: PSMF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.532 | PSMF1 | Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.532 | PSMF1 | Zornitza Stark Phenotypes for gene: PSMF1 were changed from to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.531 | PSMF1 | Zornitza Stark Classified gene: PSMF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.531 | PSMF1 | Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.530 | PSMF1 |
Boris Keren gene: PSMF1 was added gene: PSMF1 was added to Callosome. Sources: Literature Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMF1 were set to doi: 10.1101/2024.06.19.24308302 Penetrance for gene: PSMF1 were set to Complete Review for gene: PSMF1 was set to GREEN Added comment: Patients have a range of neurological disorders ranging from neonatal lethality to Parkinsonism with intellectual disability. Nearly all patients have corpus callosum agenesis. LoF have a more severe phenotype than missense. The association of a LoF and a missense is common. Sources: Literature |
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