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| Hereditary Spastic Paraplegia - paediatric v1.70 | ERLIN2 | Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia, dominant to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia 18A, autosomal dominant, MIM# 620512 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.69 | 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 - paediatric v0.25 | ERLIN2 | Zornitza Stark Marked gene: ERLIN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.25 | ERLIN2 | Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.25 | ERLIN2 | Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia 18, autosomal recessive, MIM# 611225 to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia, dominant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.24 | ERLIN2 | Zornitza Stark Classified gene: ERLIN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.24 | ERLIN2 | Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.23 | ERLIN2 |
Zornitza Stark gene: ERLIN2 was added gene: ERLIN2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 23109145; 21330303; 32094424; 29528531 Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, MIM# 611225 Review for gene: ERLIN2 was set to GREEN Added comment: 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 |
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