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  3. NDUFS3
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Structural basal ganglia disorders

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)

Associated with phenotype in OMIM, not in G2P. At least 2 variants reported in two cases, only one of which had the relevant phenotype of Leigh syndrome due to mitochondrial complex I deficiency 256000
Created: 2 Mar 2017, 3:33 p.m.
Created: 2 Mar 2017, 3:33 p.m.

Panel version: 0.82

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 4:07 p.m.

Panel version: 0.32

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:29 a.m.

Panel version: Imported from "Mitochondrial disorders" panel version 0.37

History Filter Activity

16 Mar 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

2 Mar 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NDUFS3 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000; Mitochondrial complex I deficiency 252010

2 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

NDUFS3 was added to Structural basal ganglia disorderspanel. Sources: Literature

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

NDUFS3 was created by Manju