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Hereditary spastic paraplegia v1.232 | KIF1A | Arina Puzriakova Publications for gene: KIF1A were set to Erlich et al. (2011) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.231 | KIF1A | Arina Puzriakova Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.230 | KIF1A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'biallelic' only to 'both mono- and biallelic' De novo and inherited heterozygous variants in the motor domain have been identified in patients with pure and complex HSP. Variants outside motor domain reported to be biallelic. Both adult and childhood onset. Null alleles show biallelic inheritance. |
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Hereditary spastic paraplegia v1.230 | KIF1A | Arina Puzriakova Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.213 | KIF1A | Louise Daugherty Tag watchlist was removed from gene: KIF1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.213 | KIF1A | Louise Daugherty commented on gene: KIF1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia | KIF1A | Ellen Thomas commented on KIF1A |