06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDUFA11
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFA11.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDUFA11
Rebecca Foulger Source NHS GMS was added to NDUFA11.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDUFA11
Rebecca Foulger reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
NDUFA11
Tracy Lester reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: ; Publications: 18306244; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, 618236 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Dec 2018
Early onset or syndromic epilepsy v0.1478
NDUFA11
Sarah Leigh Classified gene: NDUFA11 as Red List (low evidence)
06 Dec 2018
Early onset or syndromic epilepsy v0.1478
NDUFA11
Sarah Leigh Added comment: Comment on list classification: Based on single case and the observation that not all the carriers manifested with convulsive disorder
06 Dec 2018
Early onset or syndromic epilepsy v0.1478
NDUFA11
Sarah Leigh Gene: ndufa11 has been classified as Red List (Low Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1477
NDUFA11
Sarah Leigh Marked gene: NDUFA11 as ready
06 Dec 2018
Early onset or syndromic epilepsy v0.1477
NDUFA11
Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least one homozygous variant identified in a large consanguineous Bedoin family, convulsive disorder appeared at 4 months in one patient (PMID 18306244).
06 Dec 2018
Early onset or syndromic epilepsy v0.1477
NDUFA11
Sarah Leigh Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1477
NDUFA11
Sarah Leigh Publications for gene: NDUFA11 were set to
06 Dec 2018
Early onset or syndromic epilepsy v0.1476
NDUFA11
Sarah Leigh Deleted their comment
06 Dec 2018
Early onset or syndromic epilepsy v0.1476
NDUFA11
Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial complex I deficiency 252010
06 Dec 2018
Early onset or syndromic epilepsy v0.1476
NDUFA11
Sarah Leigh Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency 252010
25 Jun 2018
Early onset or syndromic epilepsy
NDUFA11
Sarah Leigh Added gene to panel