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| Arthrogryposis v2.6 | PSMF1 | Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related to Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.5 | PSMF1 | Zornitza Stark Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.4 | PSMF1 | Zornitza Stark edited their review of gene: PSMF1: Changed publications: 41986367; Changed phenotypes: Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.0 | PSMF1 | Gene migrated from ENSG00000125818 to ENSG00000125818 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.411 | PSMF1 | Zornitza Stark Marked gene: PSMF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.411 | PSMF1 | Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.411 | PSMF1 | Zornitza Stark Classified gene: PSMF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.411 | PSMF1 | Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.410 | PSMF1 |
Zornitza Stark gene: PSMF1 was added gene: PSMF1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1 Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Review for gene: PSMF1 was set to GREEN Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data. Sources: Expert list |
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