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Early onset or syndromic epilepsy v1.191 NDUFA11 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFA11.
Early onset or syndromic epilepsy v1.190 NDUFA11 Rebecca Foulger Source NHS GMS was added to NDUFA11.
Early onset or syndromic epilepsy v1.189 NDUFA11 Rebecca Foulger reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1478 NDUFA11 Sarah Leigh Classified gene: NDUFA11 as Red List (low evidence)
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
Early onset or syndromic epilepsy v0.1478 NDUFA11 Sarah Leigh Gene: ndufa11 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Marked gene: NDUFA11 as ready
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).
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Publications for gene: NDUFA11 were set to
Early onset or syndromic epilepsy v0.1476 NDUFA11 Sarah Leigh Deleted their comment
Early onset or syndromic epilepsy v0.1476 NDUFA11 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1476 NDUFA11 Sarah Leigh Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy NDUFA11 Sarah Leigh Added gene to panel