06 Aug 2019
Early onset or syndromic epilepsy v1.191
SDHA
Rebecca Foulger Source Wessex and West Midlands GLH was added to SDHA.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SDHA
Rebecca Foulger Source NHS GMS was added to SDHA.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SDHA
Rebecca Foulger reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
04 Dec 2018
Early onset or syndromic epilepsy v0.1363
SDHA
Sarah Leigh Marked gene: SDHA as ready
04 Dec 2018
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).
04 Dec 2018
Early onset or syndromic epilepsy v0.1363
SDHA
Sarah Leigh Gene: sdha has been classified as Amber List (Moderate Evidence).
04 Dec 2018
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.
04 Dec 2018
Early onset or syndromic epilepsy v0.1362
SDHA
Sarah Leigh Publications for gene: SDHA were set to
04 Dec 2018
Early onset or syndromic epilepsy v0.1355
SDHA
Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain complex II deficiency 252011
04 Dec 2018
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
04 Dec 2018
Early onset or syndromic epilepsy v0.1354
SDHA
Sarah Leigh Mode of inheritance for gene: SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Aug 2018
Early onset or syndromic epilepsy
SDHA
Zornitza Stark reviewed gene: SDHA
25 Jun 2018
Early onset or syndromic epilepsy
SDHA
Sarah Leigh Added gene to panel