Mitochondrial disorders
Gene: NFS1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in six cases from two unrelated families, together with supportive functional studies.Created: 16 Feb 2021, 4:30 p.m. | Last Modified: 16 Feb 2021, 4:30 p.m.
Panel Version: 2.19
Comment on phenotypes: PMID: 24498631 describes the phenotype as "infantile mitochondrial complex II/III deficiency"Created: 16 Feb 2021, 4:24 p.m. | Last Modified: 16 Feb 2021, 4:24 p.m.
Panel Version: 2.19
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 16 Feb 2021, 4:23 p.m. | Last Modified: 16 Feb 2021, 4:23 p.m.
Panel Version: 2.18
No additional reports were found so therefore this gene will remain a red gene until further evidence is available.Created: 2 May 2019, 2:57 p.m.
PMID 33457206: 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: 12 Feb 2021, 4:29 a.m. | Last Modified: 12 Feb 2021, 4:29 a.m.
Panel Version: 2.15
I can only find a single family reported in the literature.Created: 31 Aug 2018, 4:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive hypotonia; lactic acidosis; acute metabolic crises; liver dysfunction; increased CPK
Publications
Tag Q2_21_rating was removed from gene: NFS1.
Source NHS GMS was added to NFS1. Source Expert Review Green was added to NFS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: NFS1 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 52, OMIM:619386
Tag Q2_21_rating tag was added to gene: NFS1.
Phenotypes for gene: NFS1 were changed from No OMIM phenotype to No OMIM phenotype
Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Publications for gene: NFS1 were set to 24498631; 33457206
Publications for gene: NFS1 were set to 24498631
Mode of inheritance for gene: NFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFS1 were set to
Victorian Clinical Genetics Services was added to NFS1. Panel: Mitochondrial disorders
NFS1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Expert
NFS1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Expert