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Severe Paediatric Disorders v0.17 | CPT2 | Louise Daugherty Mode of inheritance for gene CPT2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CPT2 | Louise Daugherty reviewed gene: CPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CPT2 | Louise Daugherty Publications for gene CPT2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CPT2 | Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CPT2 | Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CPT2 | Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CPT2 | Louise Daugherty Added phenotypes CPT II deficiency, lethal neonatal, 608836; CPT II deficiency, infantile, 600649; CPT II deficiency, myopathic, stress-induced, 255110 for gene: CPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CPT2 | Louise Daugherty Source Next Generation Children Project was added to CPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CPT2 |
Louise Daugherty Source Expert Review Green was added to CPT2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CPT2 |
Louise Daugherty gene: CPT2 was added gene: CPT2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CPT2 was set to |