| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - adult onset v0.32 | GCH1 | Zornitza Stark Marked gene: GCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.32 | GCH1 | Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.32 | GCH1 | Zornitza Stark Classified gene: GCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.32 | GCH1 | Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.31 | GCH1 |
Zornitza Stark gene: GCH1 was added gene: GCH1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 21935284; 24509643 Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Review for gene: GCH1 was set to GREEN Added comment: Misdiagnosis as spasticity/CP documented. Treatable disorder. Include on panel due to phenotypic overlap. Sources: Expert list |
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