| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v0.27 | FA2H | Zornitza Stark Marked gene: FA2H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.27 | FA2H | Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.27 | FA2H | Zornitza Stark Classified gene: FA2H as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.27 | FA2H | Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.26 | FA2H |
Zornitza Stark gene: FA2H was added gene: FA2H was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 20104589; 23745665; 19068277; 20853438; 22146942 Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM# 612319 Review for gene: FA2H was set to GREEN Added comment: Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some indviduals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA). Sources: Expert list |
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