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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 v2.75 | CPT1A | Eleanor Williams Source: Expert Review Red was removed from gene: CPT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | SCP2 |
Ivone Leong Source NHS GMS was added to SCP2. Source London North GLH was added to SCP2. |
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| 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. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | CPT1A |
Ivone Leong Source NHS GMS was added to CPT1A. Source London North GLH was added to CPT1A. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | CPS1 |
Ivone Leong Source NHS GMS was added to CPS1. Source London North GLH was added to CPS1. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | CPOX |
Ivone Leong Source NHS GMS was added to CPOX. Source London North GLH was added to CPOX. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | CP |
Ivone Leong Source NHS GMS was added to CP. Source London North GLH was added to CP. |
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| Likely inborn error of metabolism - targeted testing not possible v1.7 | CP | Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | CPOX |
Ellen McDonagh gene: CPOX was added gene: CPOX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPOX were set to 27604308 Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SCP2 |
Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCP2 were set to 27604308 Phenotypes for gene: SCP2 were set to Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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| 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) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CPT1A |
Ellen McDonagh gene: CPT1A was added gene: CPT1A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT1A were set to 27604308 Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle); CPT deficiency, hepatic, type IA |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CPS1 |
Ellen McDonagh gene: CPS1 was added gene: CPS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 27604308; 24816252 Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CP |
Ellen McDonagh gene: CP was added gene: CP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Cerebellar ataxia |
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