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Hereditary spastic paraplegia, childhood onset v2.49 KIF1A Arina Puzriakova Publications for gene: KIF1A were set to 21487076; 22258533; 28362824
Hereditary spastic paraplegia, childhood onset v2.48 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213 to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
Hereditary spastic paraplegia, childhood onset v2.7 KIF1A Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, childhood onset v2.7 KIF1A Louise Daugherty commented on gene: KIF1A: As a result of watchlist tag audit the watchlist tag was removed from KIF1A- this is now a green gene with sufficient evidence/review
Hereditary spastic paraplegia, childhood onset v1.131 KIF1A Louise Daugherty Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 to Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213
Hereditary spastic paraplegia, childhood onset v1.130 KIF1A Louise Daugherty Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.129 KIF1A Louise Daugherty Publications for gene: KIF1A were set to 21487076; 22258533
Hereditary spastic paraplegia, childhood onset v1.128 KIF1A Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, childhood onset v1.75 KIF1A Louise Daugherty Source Yorkshire and North East GLH was added to KIF1A.
Hereditary spastic paraplegia, childhood onset v1.74 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21487076, 22258533, 28362824; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.74 KIF1A Louise Daugherty commented on gene: KIF1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia, childhood onset v1.48 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.6 KIF1A James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357, Mental retardation, autosomal dominant 9, 614255, AD, Neuropathy, hereditary sensory, type IIC, 614213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.5 KIF1A Louise Daugherty Source NHS GMS was added to KIF1A.
Hereditary spastic paraplegia, childhood onset v1.4 KIF1A Louise Daugherty Source London North GLH was added to KIF1A.
Hereditary spastic paraplegia, childhood onset v1.3 KIF1A Louise Daugherty Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 for gene: KIF1A
Hereditary spastic paraplegia, childhood onset v0.107 KIF1A Louise Daugherty Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal recessive, 610357
Hereditary spastic paraplegia, childhood onset v0.106 KIF1A Louise Daugherty Publications for gene: KIF1A were set to Erlich et al. (2011)
Hereditary spastic paraplegia, childhood onset v0.62 KIF1A Arianna Tucci commented on gene: KIF1A
Hereditary spastic paraplegia, childhood onset v0.6 KIF1A Sarah Leigh gene: KIF1A was added
gene: KIF1A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to Erlich et al. (2011)
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive