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| Hereditary Spastic Paraplegia - adult onset v0.75 | FA2H | Zornitza Stark Marked gene: FA2H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.75 | FA2H | Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.75 | FA2H | Zornitza Stark Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 611026 to Spastic paraplegia 35, autosomal recessive, 611026; MONDO:0012866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.74 | FA2H | Zornitza Stark Publications for gene: FA2H were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.73 | FA2H |
Zornitza Stark changed review comment from: 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; to: 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). Rare reports of adult onset, PMID 30446360 Sources: Expert list |
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| Hereditary Spastic Paraplegia - adult onset v0.73 | FA2H | Zornitza Stark edited their review of gene: FA2H: Changed publications: 20104589, 23745665, 19068277, 20853438, 22146942, 30446360; Changed phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | FA2H |
Bryony Thompson gene: FA2H was added gene: FA2H was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 611026 |
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