Research panel - Severe Paediatric Disorders
Gene: NDUFS2

NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
EnsemblGeneIds (GRCh38): ENSG00000158864
EnsemblGeneIds (GRCh37): ENSG00000158864
OMIM: 602985, Gene2Phenotype
NDUFS2 is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NDUFS2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:22 p.m.
Last Modified: 20 Feb 2020, 5:22 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Mitochondrial complex I deficiency, nuclear type 6, 618228

OMIM

602985

Clinvar variants

Variants in NDUFS2

Penetrance

None

Publications

30847515

Panels with this gene