Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Possible mitochondrial disorder - nuclear genes v1.64 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT II deficiency, myopathic, stress-induced, 255110 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836; CPT II deficiency, myopathic, stress-induced, OMIM:255110
Possible mitochondrial disorder - nuclear genes v0.5 CPT2 Ivone Leong reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CPT II deficiency, myopathic, stress-induced, 255110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.4 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced, 255110