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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

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

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

PMID 14729820 describes a patient with compound heterozygosity. PMID 19167255 has a heterozygous patient. Currently insufficient evidence and may be more appropriate on mitochondrial panel
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to NDUFS3.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NDUFS3 was added gene: NDUFS3 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: NDUFS3 was set to