Mitochondrial disease
Gene: NDUFA6EnsemblGeneIds (GRCh38): ENSG00000184983
EnsemblGeneIds (GRCh37): ENSG00000184983
OMIM: 602138, Gene2Phenotype
NDUFA6 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated children reported with bi-allelic variants in this gene and delayed development and/or neurologic deterioration in the first weeks or years of life. Two individuals died in infancy; the other 2 were unable to stand, walk, or speak, and had optic atrophy.
Sources: Expert listCreated: 18 Mar 2020, 12:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
- OMIM
- 602138
- Clinvar variants
- Variants in NDUFA6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ndufa6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ndufa6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NDUFA6 was added gene: NDUFA6 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA6 were set to 30245030 Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253 Review for gene: NDUFA6 was set to GREEN gene: NDUFA6 was marked as current diagnostic