Inherited white matter disorders
Gene: NDUFS7EnsemblGeneIds (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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- Mitochondrial respiratory chain complex I deficiency
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Genetic leukoencephalopathies: mitochondrial disorders
- Leigh syndrome
- OMIM
- 601825
- Clinvar variants
- Variants in NDUFS7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Optic neuropathy
- Intellectual disability
- Inherited white matter disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NDUFS7 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)NDUFS7 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)NDUFS7 was created by [email protected]