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Inborn errors of metabolism

Gene: NDUFS6

Green List (high evidence)

NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6)
EnsemblGeneIds (GRCh38): ENSG00000145494
EnsemblGeneIds (GRCh37): ENSG00000145494
OMIM: 603848, Gene2Phenotype
NDUFS6 is in 9 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I, mitochondrial respiratory chain, deficiency of, 252010
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex I Deficiency
OMIM
603848
Clinvar variants
Variants in NDUFS6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NDUFS6. Source London North GLH was added to NDUFS6.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS6 Publications for gene NDUFS6 were changed from to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NDUFS6 was added gene: NDUFS6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS6 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Isolated complex I deficiency