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Childhood onset hereditary spastic paraplegia v2.104 | CPT1C | Arina Puzriakova Classified gene: CPT1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.104 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.104 | CPT1C | Arina Puzriakova Gene: cpt1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.103 | CPT1C | Arina Puzriakova Publications for gene: CPT1C were set to 25751282; 30564185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.102 | CPT1C | Arina Puzriakova reviewed gene: CPT1C: Rating: ; Mode of pathogenicity: None; Publications: 30911584; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.102 | CPT1C | Arina Puzriakova Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282, AD to Spastic paraplegia 73, autosomal dominant, OMIM:616282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.15 | CPT1C | Zornitza Stark reviewed gene: CPT1C: Rating: RED; Mode of pathogenicity: None; Publications: 25751282; Phenotypes: Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.164 | CPT1C | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.97 | CPT1C | Louise Daugherty Mode of inheritance for gene: CPT1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.96 | CPT1C | Louise Daugherty Publications for gene: CPT1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | CPT1C |
Louise Daugherty Source Yorkshire and North East GLH was added to CPT1C. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.74 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | CPT1C | Louise Daugherty commented on gene: CPT1C: 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 | CPT1C | Louise Daugherty reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.13 | CPT1C | Louise Daugherty Classified gene: CPT1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.13 | CPT1C | Louise Daugherty Gene: cpt1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.12 | CPT1C | Louise Daugherty Phenotypes for gene: CPT1C were changed from to ?Spastic paraplegia 73, autosomal dominant, 616282, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.11 | CPT1C | Louise Daugherty Mode of inheritance for gene: CPT1C was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | CPT1C | James Polke reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.5 | CPT1C | Louise Daugherty Source NHS GMS was added to CPT1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | CPT1C |
Louise Daugherty gene: CPT1C was added gene: CPT1C was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH Mode of inheritance for gene: CPT1C was set to |