06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDUFS4
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS4.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDUFS4
Rebecca Foulger Source NHS GMS was added to NDUFS4.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDUFS4
Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
NDUFS4
Tracy Lester reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2018
Early onset or syndromic epilepsy v0.1483
NDUFS4
Sarah Leigh Marked gene: NDUFS4 as ready
06 Dec 2018
Early onset or syndromic epilepsy v0.1483
NDUFS4
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three biallelic variants reported in unrelated cases in which seizures are a phenotypic feature.
06 Dec 2018
Early onset or syndromic epilepsy v0.1483
NDUFS4
Sarah Leigh Gene: ndufs4 has been classified as Green List (High Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1483
NDUFS4
Sarah Leigh Classified gene: NDUFS4 as Green List (high evidence)
06 Dec 2018
Early onset or syndromic epilepsy v0.1483
NDUFS4
Sarah Leigh Gene: ndufs4 has been classified as Green List (High Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1482
NDUFS4
Sarah Leigh Mode of inheritance for gene: NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Dec 2018
Early onset or syndromic epilepsy v0.1481
NDUFS4
Sarah Leigh Publications for gene: NDUFS4 were set to 28371352; 27671926; 27079373; 19107570; 9463323
06 Dec 2018
Early onset or syndromic epilepsy v0.1480
NDUFS4
Sarah Leigh Phenotypes for gene: NDUFS4 were changed from to Leigh syndrome 256000; Mitochondrial complex I deficiency 252010
06 Dec 2018
Early onset or syndromic epilepsy v0.1479
NDUFS4
Sarah Leigh Publications for gene: NDUFS4 were set to
17 Aug 2018
Early onset or syndromic epilepsy
NDUFS4
Zornitza Stark reviewed gene: NDUFS4
25 Jun 2018
Early onset or syndromic epilepsy
NDUFS4
Sarah Leigh Added gene to panel