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Adult onset hereditary spastic paraplegia v2.7 C19orf12 Mafalda Gomes Tag Q2_22_MOI was removed from gene: C19orf12.
Adult onset hereditary spastic paraplegia v2.7 C19orf12 Mafalda Gomes commented on gene: C19orf12
Adult onset hereditary spastic paraplegia v2.6 C19orf12 Mafalda Gomes Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.97 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
Adult onset hereditary spastic paraplegia v1.97 C19orf12 Sarah Leigh Tag Q2_22_MOI tag was added to gene: C19orf12.
Adult onset hereditary spastic paraplegia v1.97 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
Adult onset hereditary spastic paraplegia v1.96 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to 23857908; 26539891
Adult onset hereditary spastic paraplegia v0.148 C19orf12 Louise Daugherty commented on gene: C19orf12: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Adult onset hereditary spastic paraplegia v0.146 C19orf12 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.76 C19orf12 Louise Daugherty Publications for gene: C19orf12 were set to
Adult onset hereditary spastic paraplegia v0.54 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Adult onset hereditary spastic paraplegia v0.53 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.52 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
Adult onset hereditary spastic paraplegia v0.6 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 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
Adult onset hereditary spastic paraplegia v0.4 C19orf12 Louise Daugherty Source Expert Review Green was added to C19orf12.
Mode of inheritance for gene C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Adult onset hereditary spastic paraplegia v0.2 C19orf12 Louise Daugherty gene: C19orf12 was added
gene: C19orf12 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: C19orf12 was set to