Mitochondrial disease
Gene: NFS1

NFS1 (NFS1, cysteine desulfurase)
EnsemblGeneIds (GRCh38): ENSG00000244005
EnsemblGeneIds (GRCh37): ENSG00000244005
OMIM: 603485, Gene2Phenotype
NFS1 is in 2 panels

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.
Created: 2 Feb 2021, 7:57 a.m. | Last Modified: 2 Feb 2021, 7:58 a.m.

Panel Version: 0.574

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive hypotonia; lactic acidosis; acute metabolic crises; liver dysfunction; increased CPK

Publications

PMID: 33457206

Created: 2 Feb 2021, 7:57 a.m.
Last Modified: 2 Feb 2021, 7:58 a.m.
Panel version: 0.574

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported and functional data.
Created: 18 Mar 2020, 12:31 a.m. | Last Modified: 18 Mar 2020, 12:31 a.m.

Panel Version: 0.150

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 52, MIM#619386; Complex II/III deficiency; multisystem organ failure

Publications

24498631

Created: 18 Mar 2020, 12:31 a.m.
Last Modified: 18 Mar 2020, 12:31 a.m.
Panel version: 0.631

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Combined oxidative phosphorylation deficiency 52, MIM#619386
Complex II/III deficiency
multisystem organ failure

OMIM

603485

Clinvar variants

Variants in NFS1

Penetrance

None

Publications

Panels with this gene