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| Hereditary Spastic Paraplegia - adult onset v0.47 | ALDH18A1 | Zornitza Stark Marked gene: ALDH18A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.47 | ALDH18A1 | Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.47 | ALDH18A1 | Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal dominant 3 616603; SPG9; Spastic paraplegia 9B, autosomal recessive 616586; Cutis laxa, autosomal recessive, type IIIA 219150; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9A, autosomal dominant 601162 to Spastic paraplegia 9B, autosomal recessive, MIM# 616586; Spastic paraplegia 9A, autosomal dominant, MIM# 601162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.46 | ALDH18A1 | Zornitza Stark Publications for gene: ALDH18A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.45 | ALDH18A1 |
Zornitza Stark changed review comment from: At least four unrelated families reported with bi-allelic complex HSP, including microcephaly and ID. Mono-allelic variants are also associated with HSP (at least 15 patients from 3 families) but this tends to be with adult onset, although some childhood onset also reported. Sources: Expert list; to: At least four unrelated families reported with bi-allelic complex HSP, including microcephaly and ID. Mono-allelic variants are also associated with HSP (at least 15 patients from 3 families). This tends to be with adult onset, although some childhood onset also reported. Sources: Expert list |
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| Hereditary Spastic Paraplegia - adult onset v0.0 | ALDH18A1 |
Bryony Thompson gene: ALDH18A1 was added gene: ALDH18A1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal dominant 3 616603; SPG9; Spastic paraplegia 9B, autosomal recessive 616586; Cutis laxa, autosomal recessive, type IIIA 219150; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9A, autosomal dominant 601162 |
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