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Childhood onset hereditary spastic paraplegia v3.9 C19orf12 Mafalda Gomes Tag Q2_22_MOI was removed from gene: C19orf12.
Childhood onset hereditary spastic paraplegia v3.9 C19orf12 Mafalda Gomes commented on gene: C19orf12
Childhood onset hereditary spastic paraplegia v3.8 C19orf12 Mafalda Gomes Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.133 C19orf12 Sarah Leigh Tag Q2_22_MOI tag was added to gene: C19orf12.
Childhood onset hereditary spastic paraplegia v2.133 C19orf12 Sarah Leigh reviewed gene: C19orf12: Rating: ; Mode of pathogenicity: None; Publications: 29295770, 31087512; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.133 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Childhood onset hereditary spastic paraplegia v2.132 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to 23857908; 26539891
Childhood onset hereditary spastic paraplegia v1.143 C19orf12 Louise Daugherty Publications for gene: C19orf12 were set to 23857908
Childhood onset hereditary spastic paraplegia v1.142 C19orf12 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Childhood onset hereditary spastic paraplegia v1.74 C19orf12 Louise Daugherty commented on gene: C19orf12: 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 v1.73 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: None; Publications: 23857908, 26539891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.48 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Childhood onset hereditary spastic paraplegia v1.4 C19orf12 Louise Daugherty Source London North GLH was added to C19orf12.
Childhood onset hereditary spastic paraplegia v1.3 C19orf12 Louise Daugherty Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Childhood onset hereditary spastic paraplegia v0.88 C19orf12 Louise Daugherty Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, 614298 to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043
Childhood onset hereditary spastic paraplegia v0.87 C19orf12 Louise Daugherty Publications for gene: C19orf12 were set to Landoure (2013)
Childhood onset hereditary spastic paraplegia v0.86 C19orf12 Louise Daugherty Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, 614298
Childhood onset hereditary spastic paraplegia v0.62 C19orf12 Arianna Tucci commented on gene: C19orf12
Childhood onset hereditary spastic paraplegia v0.6 C19orf12 Sarah Leigh gene: C19orf12 was added
gene: C19orf12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to Landoure (2013)