Activity
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6 actions
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| Hereditary neuropathy or pain disorder v5.57 | ALDH18A1 | Sarah Leigh reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.57 | ALDH18A1 | Sarah Leigh Classified gene: ALDH18A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.57 | ALDH18A1 | Sarah Leigh Gene: aldh18a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.56 | ALDH18A1 | Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from spastic paraplegia; cognitive impairment; motor neuronopathy to Spastic paraplegia 9A, autosomal dominant, OMIM:601162; hereditary spastic paraplegia 9A, MONDO:0011006; Spastic paraplegia 9B, autosomal recessive, OMIM:616586; autosomal recessive complex spastic paraplegia type 9B, MONDO:0014702 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.55 | ALDH18A1 | Sarah Leigh Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.16 | ALDH18A1 |
Alexander Rossor gene: ALDH18A1 was added gene: ALDH18A1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143 Phenotypes for gene: ALDH18A1 were set to spastic paraplegia; cognitive impairment; motor neuronopathy Penetrance for gene: ALDH18A1 were set to Complete Review for gene: ALDH18A1 was set to AMBER Added comment: Currently present in several members of two unrelated families Sources: Expert list |
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