Regression
Gene: NDUFA4EnsemblGeneIds (GRCh38): ENSG00000189043
EnsemblGeneIds (GRCh37): ENSG00000189043
OMIM: 603833, Gene2Phenotype
NDUFA4 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family and a lot of functional data. Encodes a complex IV subunit. Minimal clinical information provided but four siblings described with neurological phenotype with bulbar dysfunction, dystonia, ataxia, spasticity, and intermittent encephalopathy. Insufficient evidence to include in this specific panel.Created: 18 Mar 2020, 12:14 a.m. | Last Modified: 18 Mar 2020, 12:14 a.m.
Panel Version: 0.91
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Leigh syndrome; Complex IV deficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065
- Leigh syndrome
- Complex IV deficiency
- OMIM
- 603833
- Clinvar variants
- Variants in NDUFA4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NDUFA4 were changed from Leigh syndrome; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Leigh syndrome; Complex IV deficiency
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ndufa4 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NDUFA4 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ndufa4 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NDUFA4 was added gene: NDUFA4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFA4 was set to Unknown