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Adult onset hereditary spastic paraplegia v1.95 | CPT1C | Ivone Leong Tag Q4_21_rating was removed from gene: CPT1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.95 | CPT1C | Sarah Leigh commented on gene: CPT1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.94 | CPT1C |
Ivone Leong Source Expert Review Green was added to CPT1C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v1.86 | CPT1C | Arina Puzriakova Classified gene: CPT1C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.86 | CPT1C | Arina Puzriakova Added comment: Comment on list classification: Overall one family with confirmed adult-onset and one with childhood-onset have been reported, as well as two further unrelated cases but unfortunately without indication of age of onset. Although onset is variable, the gene-disease relationship is supported by a strong animal model, and therefore it is worth including CPT1C on both HSP panels as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.86 | CPT1C | Arina Puzriakova Gene: cpt1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.85 | CPT1C | Arina Puzriakova Tag Q4_21_rating tag was added to gene: CPT1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.85 | CPT1C | Arina Puzriakova Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282 to Spastic paraplegia 73, autosomal dominant, OMIM:616282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.7 | CPT1C | Zornitza Stark Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.7 | CPT1C | Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23973755; Phenotypes: Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.148 | CPT1C | Louise Daugherty commented on gene: CPT1C: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.147 | CPT1C |
Louise Daugherty Source Expert Review Amber was added to CPT1C. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Adult onset hereditary spastic paraplegia v0.146 | CPT1C | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.80 | CPT1C | Louise Daugherty Publications for gene: CPT1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | CPT1C | Louise Daugherty Source Yorkshire and North East GLH was added to CPT1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | CPT1C | Nick Beauchamp reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25751282, 30564185; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | CPT1C | Louise Daugherty commented on gene: CPT1C: 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 v0.6 | CPT1C | Louise Daugherty reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | CPT1C | James Polke reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | CPT1C |
Louise Daugherty Source Expert Review Green was added to CPT1C. Mode of inheritance for gene CPT1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v0.3 | CPT1C | Louise Daugherty Source NHS GMS was added to CPT1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | CPT1C |
Louise Daugherty gene: CPT1C was added gene: CPT1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CPT1C was set to |