Early onset or syndromic epilepsy
Gene: NDUFAF4
Amber ratings from Tracy Lester and Zornitza Stark support the current Amber rating of NDUFAF4.Created: 8 Oct 2019, 10:06 a.m. | Last Modified: 8 Oct 2019, 10:06 a.m.
Panel Version: 1.363
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
better tested through the mito panel. Mitochondrial disorders can associated with seizures, but the evidence is not specifically implicated and there are very few disease associated variants in the literature. There is a case report of a child born to consanguinous parents with episodic seizures and Leigh syndrome, PMID 28853723.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 15, 618237
Publications
Seizures are part of the phenotype of this mitochondrial disorder. However, only two families reported.Created: 17 Aug 2018, 9:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, MIM#252010
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: NDUFAF4 were set to
Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15, 618237
Mode of inheritance for gene: NDUFAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Wessex and West Midlands GLH was added to NDUFAF4.
Source NHS GMS was added to NDUFAF4.
Zornitza Stark: Seizures are part of the pheno
Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: NDUFAF4.
Expert Review Amber was added to NDUFAF4. Panel: Genetic Epilepsy Syndromes
NDUFAF4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDUFAF4 was created by Sarah Leigh