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Hereditary Spastic Paraplegia - adult onset v1.8 | ERLIN2 | Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; MONDO:0012639 to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia 18A, autosomal dominant, MIM# 620512 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v1.7 | ERLIN2 | Zornitza Stark edited their review of gene: ERLIN2: Changed phenotypes: Spastic paraplegia 18, autosomal recessive, MIM# 611225, Spastic paraplegia 18A, autosomal dominant, MIM# 620512 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.73 | ERLIN2 | Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225 to Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; MONDO:0012639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.72 | ERLIN2 | Zornitza Stark Marked gene: ERLIN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.72 | ERLIN2 | Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.72 | ERLIN2 | Zornitza Stark Publications for gene: ERLIN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.71 | ERLIN2 | Zornitza Stark Mode of inheritance for gene: ERLIN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.70 | ERLIN2 |
Zornitza Stark changed review comment from: B-allelic variants: early onset complex HSP, including ID and contractures. Mono-allelic variants reported with isolated HSP, variable age of onset including childhood. Sources: Expert list; to: B-allelic variants: early onset complex HSP, including ID and contractures. Mono-allelic variants reported with isolated HSP, variable age of onset. Sources: Expert list |
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Hereditary Spastic Paraplegia - adult onset v0.0 | ERLIN2 |
Bryony Thompson gene: ERLIN2 was added gene: ERLIN2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ERLIN2 were set to Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225 |