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Likely inborn error of metabolism - targeted testing not possible v3.6 CPT2 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: CPT2.
Likely inborn error of metabolism - targeted testing not possible v3.6 CPT2 Achchuthan Shanmugasundram commented on gene: CPT2
Likely inborn error of metabolism - targeted testing not possible v3.5 CPT2 Achchuthan Shanmugasundram Mode of inheritance for gene CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.221 CPT2 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: CPT2.
Likely inborn error of metabolism - targeted testing not possible v2.221 CPT2 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS review. Although most cases are associated with biallelic variants, symptomatic heterozygous patients have also been described (PMID: 15622536; 21913903; 23184072; 24843804). Severity of symptoms tends to correlate with residual CPT enzyme activity but it is plausible that heterozygotes may still be tested under this panel. Both MOIs are listed in OMIM for this phenotype (MIM# 255110)
Likely inborn error of metabolism - targeted testing not possible v2.221 CPT2 Arina Puzriakova Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.220 CPT2 Arina Puzriakova Publications for gene: CPT2 were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v2.219 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836; CPT II deficiency, myopathic, stress-induced, OMIM:255110; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Likely inborn error of metabolism - targeted testing not possible v2.76 CPT2 Eleanor Williams Source: Expert Review Red was removed from gene: CPT2
Likely inborn error of metabolism - targeted testing not possible v1.47 CPT2 Ivone Leong Source NHS GMS was added to CPT2.
Source London North GLH was added to CPT2.
Likely inborn error of metabolism - targeted testing not possible v0.4 CPT2 Ellen McDonagh gene: CPT2 was added
gene: CPT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 27604308; 24816252
Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)