Inherited white matter disorders

Gene: NDUFS7

Green List (high evidence)

NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)
EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 16 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, more than 3 unrelated cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Genetic leukoencephalopathies: mitochondrial disorders. Green gene in the Mitochondrial panel version 1.10 and the ID panel 1.2.
Created: 18 Aug 2016, 3:31 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_654

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

18 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NDUFS7 were set to Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Genetic leukoencephalopathies: mitochondrial disorders;Leigh syndrome

18 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NDUFS7 were set to Mitochondrial Leukoencephalopathy;Mitochondrial respiratory chain complex I deficiency;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Genetic leukoencephalopathies: mitochondrial disorders

18 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NDUFS7 were set to 25655951

18 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

NDUFS7 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

NDUFS7 was created by [email protected]