Regression
Gene: NDUFS2
Biallelic variants associated with respiratory chain complex I deficiency in multiple families. Developmental regression described in a number of reported cases.
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PMID 22036843 - report one patient with nystagmus, optic atrophy, seizures and regression.
PMID 20819849 - 4 unrelated patients with compound het variants with Leigh Syndrome/Leigh-like syndrome phenotype. One patient reported to have multiple seizures with normal EEGs.
PMID: 11220739 - 4 patients from 3 unrelated families, phenotypic features include regression, bilateral optic atrophy, nystagmus, MRI-B basal ganglia anomalies, cerebral atrophy, muscle hypotonia, hypertrophic cardiomyopathy.
PMID: 23266820 - 2 siblings, compound het - developmental regression, ataxic gait with spasticity, nystagmus, optic nerve atrophy
PMID 28031252 - 3 siblings, compound het. LHON-like optic neuropathy. No extra ocular features.Created: 21 Mar 2022, 12:03 a.m. | Last Modified: 21 Mar 2022, 12:03 a.m.
Panel Version: 0.433
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Publications
Gene: ndufs2 has been classified as Green List (High Evidence).
Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Publications for gene: NDUFS2 were set to
Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: NDUFS2 was added gene: NDUFS2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFS2 was set to Unknown