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| Paediatric or syndromic cardiomyopathy v1.78 | SDHA | Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from 'biallelic' only to 'both mono- and biallelic' as cardiomyopathy has also been shown to be a feature associated with heterozygous variants in this gene (PMID: 27683074) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.78 | SDHA | Arina Puzriakova Mode of inheritance for gene: SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.67 | SDHA | Ivone Leong commented on gene: SDHA: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.67 | SDHAF1 | Ivone Leong commented on gene: SDHAF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.66 | SDHA |
Ivone Leong Source Expert Review Amber was added to SDHA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v1.66 | SDHAF1 |
Ivone Leong Source Expert Review Amber was added to SDHAF1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v0.16 | SDHAF1 | Ivone Leong commented on gene: SDHAF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | SDHA | Ivone Leong commented on gene: SDHA: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | SDHAF1 | Matthew Edwards reviewed gene: SDHAF1: Rating: RED; Mode of pathogenicity: None; Publications: 22995659, 26642834, 19465911; Phenotypes: OMIM 252011 Mitochondrial complex II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.6 | SDHAF1 |
Ivone Leong gene: SDHAF1 was added gene: SDHAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 22995659; 26642834; 19465911 Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011 |
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| Paediatric or syndromic cardiomyopathy v0.1 | SDHA |
Ivone Leong gene: SDHA was added gene: SDHA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 27604308 Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Cardiomyopathy, dilated, 1GG, 613642; Mitochondrial Respiratory Chain Complex II Deficiency; Leigh syndrome, 256000; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial respiratory chain complex II deficiency, 252011; Isolated complex II deficiency; Cardiomyopathy, dilated, 1GG |
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