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Severe Paediatric Disorders v0.12 SDHAF1 Louise Daugherty reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SDHA Louise Daugherty reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SDHAF1 Louise Daugherty Publications for gene SDHAF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SDHA Louise Daugherty Publications for gene SDHA were updated from to 30847515
Severe Paediatric Disorders v0.10 SDHAF1 Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Severe Paediatric Disorders v0.10 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.9 SDHAF1 Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Severe Paediatric Disorders v0.9 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.9 SDHAF1 Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Severe Paediatric Disorders v0.9 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.8 SDHAF1 Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Severe Paediatric Disorders v0.8 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000 for gene: SDHA
Severe Paediatric Disorders v0.8 SDHAF1 Louise Daugherty Mode of inheritance for gene SDHAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Severe Paediatric Disorders v0.8 SDHA Louise Daugherty Mode of inheritance for gene SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.7 SDHAF1 Louise Daugherty Source Next Generation Children Project was added to SDHAF1.
Severe Paediatric Disorders v0.7 SDHA Louise Daugherty Source Next Generation Children Project was added to SDHA.
Severe Paediatric Disorders v0.5 SDHAF1 Louise Daugherty Source Expert Review Green was added to SDHAF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SDHA Louise Daugherty Source Expert Review Green was added to SDHA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SDHAF1 Louise Daugherty gene: SDHAF1 was added
gene: SDHAF1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SDHAF1 was set to
Severe Paediatric Disorders v0.4 SDHA Louise Daugherty gene: SDHA was added
gene: SDHA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SDHA was set to