Early onset or syndromic epilepsy
Gene: NDUFS4
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: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR mitochondrial complex I defic nuclear type 1. Ortigoza-Escobar et al, 2016 - to date NDUFS4 variants described in 22 patients from 18 families with symptom onset between 5 days and 4 months of life. - in table 2: 4/22 patients reported with epilepsy/seizures.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
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.Created: 6 Dec 2018, 5:12 p.m.
Source Wessex and West Midlands GLH was added to NDUFS4.
Source NHS GMS was added to NDUFS4.
Zornitza Stark: Seizures are part of the pheno
Gene: ndufs4 has been classified as Green List (High Evidence).
Gene: ndufs4 has been classified as Green List (High Evidence).
Mode of inheritance for gene: NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS4 were set to 28371352; 27671926; 27079373; 19107570; 9463323
Phenotypes for gene: NDUFS4 were changed from to Leigh syndrome 256000; Mitochondrial complex I deficiency 252010
Publications for gene: NDUFS4 were set to
Expert Review Amber was added to NDUFS4. Panel: Genetic Epilepsy Syndromes
NDUFS4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NDUFS4 was created by Sarah Leigh