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Childhood onset hereditary spastic paraplegia v1.164 NIPA1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.124 NIPA1 Louise Daugherty Mode of inheritance for gene: NIPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.123 NIPA1 Louise Daugherty Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6,autosomal dominant, 600363 to Spastic paraplegia 6, autosomal dominant, 600363
Childhood onset hereditary spastic paraplegia v1.122 NIPA1 Louise Daugherty Publications for gene: NIPA1 were set to 15711826; 14508710
Childhood onset hereditary spastic paraplegia v1.75 NIPA1 Louise Daugherty Source Yorkshire and North East GLH was added to NIPA1.
Childhood onset hereditary spastic paraplegia v1.74 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15711826, 14508710, 15643603; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 NIPA1 Louise Daugherty commented on gene: NIPA1: 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.
Childhood onset hereditary spastic paraplegia v1.48 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 NIPA1 James Polke reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.5 NIPA1 Louise Daugherty Source NHS GMS was added to NIPA1.
Childhood onset hereditary spastic paraplegia v1.4 NIPA1 Louise Daugherty Source London North GLH was added to NIPA1.
Childhood onset hereditary spastic paraplegia v1.3 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6,autosomal dominant, 600363 for gene: NIPA1
Publications for gene NIPA1 were changed from 14508710; 15711826 to 15711826; 14508710
Childhood onset hereditary spastic paraplegia v0.116 NIPA1 Louise Daugherty Phenotypes for gene: NIPA1 were changed from Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant to Spastic paraplegia 6,autosomal dominant, 600363
Childhood onset hereditary spastic paraplegia v0.115 NIPA1 Louise Daugherty Publications for gene: NIPA1 were set to Rainier et al. (2003)
Childhood onset hereditary spastic paraplegia v0.62 NIPA1 Arianna Tucci commented on gene: NIPA1
Childhood onset hereditary spastic paraplegia v0.6 NIPA1 Sarah Leigh gene: NIPA1 was added
gene: NIPA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to Rainier et al. (2003)
Phenotypes for gene: NIPA1 were set to Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant