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| Hereditary Spastic Paraplegia - paediatric v0.114 | SPG7 | Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.113 | SPG7 | Zornitza Stark edited their review of gene: SPG7: Added comment: Please note some of the dominant variants initially reported now have high population frequency in gnomad.; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.55 | SPG7 | Zornitza Stark Marked gene: SPG7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.55 | SPG7 | Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.55 | SPG7 | Zornitza Stark Classified gene: SPG7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.55 | SPG7 | Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.54 | SPG7 |
Zornitza Stark gene: SPG7 was added gene: SPG7 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 22571692 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, MIM# 607259 Review for gene: SPG7 was set to GREEN Added comment: Typical onset is in adulthood, but some individuals with late childhood onset reported. Most affected individuals have had bi-allelic variants; some reports of mono-allelic variants. Sources: Expert list |
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