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Likely inborn error of metabolism v8.94 CPOX Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: CPOX.
Tag Q3_25_expert_review was removed from gene: CPOX.
Likely inborn error of metabolism v8.94 CPOX Achchuthan Shanmugasundram commented on gene: CPOX
Likely inborn error of metabolism v8.93 CPOX Achchuthan Shanmugasundram Mode of inheritance for gene CPOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.82 CPOX Ida Ertmanska changed review comment from: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Biallelic variants tend to cause earlier onset and more severe symptoms. Hence, the MOI should be changed from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'.
CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).; to: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Monoallelic variants in CPOX have very low clinical penetrance (<1%) and may be challenging to report as diagnostic. Hence, BIALLELIC, autosomal or pseudoautosomal MOI would be more appropriate. This gene has been tagged for MOI Expert Review. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).
Likely inborn error of metabolism v8.82 CPOX Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: CPOX.
Likely inborn error of metabolism v8.82 CPOX Ida Ertmanska edited their review of gene: CPOX: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.69 CPOX Ida Ertmanska Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892
Publications for gene: CPOX were updated from 27604308 to 6886003; 7757079; 8012360; 9454777; 10505225; 11074238; 11309681; 16159891; 21103937; 23236641; 23605133; 30828546; 33008663; 37540847; 38940544; 40296768
Tag Q3_25_MOI tag was added to CPOX.
Likely inborn error of metabolism v8.68 CPOX Ida Ertmanska reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 6886003, 7757079, 8012360, 9454777, 10505225, 11074238, 11309681, 16159891, 21103937, 23236641, 23605133, 30828546, 33008663, 37540847, 38940544, 40296768; Phenotypes: Coproporphyria, OMIM:121300, Harderoporphyria, OMIM:618892; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism v8.58 CPOX Sharon Whatley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38940544, 11309681, 23236641, 11074238, 23605133, 16159891, 40296768, 33008663, 30828546, 21103937, 16159891, 10505225, 9454777, 7757079, 8012360, 6886003; Phenotypes: 121300, 618892; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism v3.6 CPT2 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: CPT2.
Likely inborn error of metabolism v3.6 CPT2 Achchuthan Shanmugasundram commented on gene: CPT2
Likely inborn error of metabolism 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 v2.221 CPT2 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: CPT2.
Likely inborn error of metabolism 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 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 v2.220 CPT2 Arina Puzriakova Publications for gene: CPT2 were set to 27604308; 24816252
Likely inborn error of metabolism 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 v2.76 CPT2 Eleanor Williams Source: Expert Review Red was removed from gene: CPT2
Likely inborn error of metabolism v2.75 CPT1A Eleanor Williams Source: Expert Review Red was removed from gene: CPT1A
Likely inborn error of metabolism v1.47 SCP2 Ivone Leong Source NHS GMS was added to SCP2.
Source London North GLH was added to SCP2.
Likely inborn error of metabolism 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 v1.47 CPT1A Ivone Leong Source NHS GMS was added to CPT1A.
Source London North GLH was added to CPT1A.
Likely inborn error of metabolism v1.47 CPS1 Ivone Leong Source NHS GMS was added to CPS1.
Source London North GLH was added to CPS1.
Likely inborn error of metabolism v1.47 CPOX Ivone Leong Source NHS GMS was added to CPOX.
Source London North GLH was added to CPOX.
Likely inborn error of metabolism v1.47 CP Ivone Leong Source NHS GMS was added to CP.
Source London North GLH was added to CP.
Likely inborn error of metabolism 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 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)
Likely inborn error of metabolism 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)
Likely inborn error of metabolism 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)
Likely inborn error of metabolism 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
Likely inborn error of metabolism 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)
Likely inborn error of metabolism 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