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Early onset or syndromic epilepsy v1.191 SDHA Rebecca Foulger Source Wessex and West Midlands GLH was added to SDHA.
Early onset or syndromic epilepsy v1.190 SDHA Rebecca Foulger Source NHS GMS was added to SDHA.
Early onset or syndromic epilepsy v1.189 SDHA Rebecca Foulger reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SDHA Tracy Lester reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1GG, 613642 , Leigh syndrome, 256000 , , Mitochondrial, Mitochondrial respiratory chain complex II deficiency, 252011 , Paragangliomas 5, 614165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1363 SDHA Sarah Leigh Marked gene: SDHA as ready
Early onset or syndromic epilepsy v0.1363 SDHA Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported in two unrelated cases, one of autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency and the other of Leigh syndrome. Seizures do not appear to be a common feature of either phenotype as there are numerous reports of biallelic SDHA variants in cases with out seizures (PMIDs: 22972948, 16798039,12794685, 10746566 & 7550341).
Early onset or syndromic epilepsy v0.1363 SDHA Sarah Leigh Gene: sdha has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1362 SDHA Sarah Leigh Added comment: Comment on publications: PMIDs: 22972948, 16798039,12794685, 10746566 & 7550341 report biallelic variants, but no seizures.
Early onset or syndromic epilepsy v0.1362 SDHA Sarah Leigh Publications for gene: SDHA were set to
Early onset or syndromic epilepsy v0.1355 SDHA Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain complex II deficiency 252011
Early onset or syndromic epilepsy v0.1355 SDHA Sarah Leigh Phenotypes for gene: SDHA were changed from to Leigh syndrome 256000; Mitochondrial respiratory chain complex II deficiency 252011
Early onset or syndromic epilepsy v0.1354 SDHA Sarah Leigh Mode of inheritance for gene: SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy SDHA Zornitza Stark reviewed gene: SDHA
Early onset or syndromic epilepsy SDHA Sarah Leigh Added gene to panel