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Molecular autopsy

Gene: NFU1

Green List (high evidence)
NFU1 (NFU1 iron-sulfur cluster scaffold)
EnsemblGeneIds (GRCh38): ENSG00000169599
EnsemblGeneIds (GRCh37): ENSG00000169599
OMIM: 608100, Gene2Phenotype
NFU1 is in 12 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
608100
Clinvar variants
Variants in NFU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple mitochondrial dysfunctions syndrome 1; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: NFU1

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple mitochondrial dysfunctions syndrome 1 for gene: NFU1

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NFU1 was added gene: NFU1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 27604308 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))