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Intellectual disability

Gene: NDUFS3

Red List (low evidence)

NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)
EnsemblGeneIds (GRCh38): ENSG00000213619
EnsemblGeneIds (GRCh37): ENSG00000213619
OMIM: 603846, Gene2Phenotype
NDUFS3 is in 11 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Reported as mitochondrial inheritance for both phenotypes and additionally as X-linked for Mitochondrial complex I deficiency 252010
Created: 8 Mar 2018, 10:28 a.m.
Associated with phenotype in OMIM, not in G2P. At least 2 variants reported, both as compound heterozygotes in a case of Leigh syndrome due to mitochondrial complex I deficiency (256000) and one of these as a homozygote in a case of Mitochondrial complex I deficiency (252010). Leigh syndrome due to mitochondrial complex 1 deficiency includes features of intellectual disability.
Reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795) and as an ID candidate gene (Gilessen 2014 PMID 24896178)
Created: 8 Mar 2018, 9:32 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFS3 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFS3 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen