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| Cardiomyopathy_Paediatric v1.218 | CBL | Zornitza Stark Marked gene: CBL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.218 | CBL | Zornitza Stark Gene: cbl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.218 | CBL | Zornitza Stark Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.217 | CBL | Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.164 | MMACHC | Zornitza Stark Phenotypes for gene: MMACHC were changed from Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; DCM; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Hypertrophic-hypocontractile cardiomyopathy to methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.147 | MMACHC |
Richard Lin changed review comment from: Biallelic variants in MMACHC are associated with Cobalamin C deficiency (cblC deficiency), a multisystemic condition. Cardiomyopathy is described to occur in 10-25% of patients with early onset (below the age of 1 year) MMACHC-associated cblC deficiency in the 2026 Remethylation Disorders guidelines (PMID: 42231716). The predominant cardiomyopathy phenotype is left ventricular non compaction cardiomyopathy (PMIDs: 19767224, 20632110, 23430797, 24599607, 40830795, 42231716). Paediatric onset dilated cardiomyopathy has also been rarely reported (PMID: 19248038, 33562640, 38745823); to: Biallelic variants in MMACHC are associated with Cobalamin C deficiency (cblC deficiency), a multisystemic condition. Cardiomyopathy is described to occur in 10-25% of patients with early onset (below the age of 1 year) MMACHC-associated cblC deficiency in the 2026 Remethylation Disorders guidelines (PMID: 42231716). The predominant cardiomyopathy phenotype is left ventricular non compaction cardiomyopathy (PMIDs: 19767224, 20632110, 23430797, 24599607, 40830795, 42231716). Paediatric onset dilated cardiomyopathy has also been rarely reported (PMID: 19248038, 33562640, 38745823) |
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| Cardiomyopathy_Paediatric v1.141 | MMACHC | Richard Lin reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19248038, 19767224, 20632110, 23430797, 24599607, 33562640, 38745823, 40830795, 42231716; Phenotypes: methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | CBL | Gene migrated from ENSG00000110395 to ENSG00000110395 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber,MetBioNet Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308 Phenotypes for gene: MMACHC were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; DCM; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Hypertrophic-hypocontractile cardiomyopathy |
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| Cardiomyopathy_Paediatric v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CBL were set to 19571318; 20543203; 20619386 Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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