Mitochondrial disease
Gene: NFU1

NFU1 (NFU1 iron-sulfur cluster scaffold)
EnsemblGeneIds (GRCh38): ENSG00000169599
EnsemblGeneIds (GRCh37): ENSG00000169599
OMIM: 608100, Gene2Phenotype
NFU1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death. Cavitating leukodystrophy and other white matter changes described in multiple affected individuals.
Created: 29 May 2021, 11 a.m. | Last Modified: 29 May 2021, 11 a.m.

Panel Version: 0.626

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711

Publications

Created: 29 May 2021, 11 a.m.
Last Modified: 29 May 2021, 11 a.m.
Panel version: 0.626

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711

OMIM

608100

Clinvar variants

Variants in NFU1

Penetrance

None

Publications

Panels with this gene