Activity
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7 actions
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| Paediatric or syndromic cardiomyopathy v0.31 | MLYCD | Ivone Leong Publications for gene: MLYCD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | MLYCD | Ivone Leong reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | MLYCD | Ivone Leong Source NHS GMS was added to MLYCD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | MLYCD | James Eden changed review comment from: Cardiomyopathy is one of the main presenting features of this condition along with development delay, hypotonia, seizures, diarrhoea, vomiting hypoglycemia (Genetics Home Reference).; to: Cardiomyopathy is one of the main presenting features of this condition along with development delay, hypotonia, seizures, diarrhoea, vomiting and hypoglycemia (Genetics Home Reference). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | MLYCD | James Eden changed review comment from: Cardiomyopathy is one of main presenting features of this condition.; to: Cardiomyopathy is one of the main presenting features of this condition along with development delay, hypotonia, seizures, diarrhoea, vomiting hypoglycemia (Genetics Home Reference). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | MLYCD | James Eden reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 7609455, 9177981, 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | MLYCD |
Ivone Leong gene: MLYCD was added gene: MLYCD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLYCD were set to 27604308 Phenotypes for gene: MLYCD were set to 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism); malonic aciduria; Hypertrophic-hypocontractile cardiomyopathy; Malonyl-CoA decarboxylase deficiency; Mild clinical features. Developmental delay, epilepsy; Malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); HCM |
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