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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)
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