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| Fetal anomalies v0.605 | CPT2 | Zornitza Stark Marked gene: CPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.605 | CPT2 | Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.605 | CPT2 | Zornitza Stark Phenotypes for gene: CPT2 were changed from Myopathy due to CPT II deficiency 255110; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649 to CPT II deficiency, lethal neonatal, MIM# 608836 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.604 | CPT2 | Zornitza Stark Publications for gene: CPT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.603 | CPT2 |
Zornitza Stark changed review comment from: Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity. The most severe, neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. Some features such as microcephaly and polycystic kidneys may be detectable antenatally.; to: Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity. The most severe, neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. Some features such as microcephaly and polycystic kidneys may be detectable antenatally. Well established gene-disease association, multiple families reported. |
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| Fetal anomalies v0.603 | CPT2 | Zornitza Stark edited their review of gene: CPT2: Changed publications: 11477613, 12410208 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.603 | CPT2 | Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, lethal neonatal, MIM# 608836; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CPT2 |
Zornitza Stark gene: CPT2 was added gene: CPT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to Myopathy due to CPT II deficiency 255110; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649 |
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