Likely inborn error of metabolism - targeted testing not possible
Gene: NFS1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS review - associated with relevant phenotype in OMIM (MIM#619386) but not yet in G2P. At least one variant reported in six cases from two unrelated families, together with supportive functional studies.Created: 31 Aug 2022, 8:49 a.m. | Last Modified: 31 Aug 2022, 8:49 a.m.
Panel Version: 2.310
Additional paper - PMID 33457206: reporting a second 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: 31 Aug 2022, 8:49 a.m. | Last Modified: 31 Aug 2022, 8:49 a.m.
Panel Version: 2.309
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 52, OMIM: 619386
Publications
No further variants have been reported in the literature to date (21/10/2019).Created: 21 Oct 2019, 3:17 p.m. | Last Modified: 21 Oct 2019, 3:17 p.m.
Panel Version: 1.373
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.
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
Publications
Tag Q3_22_rating was removed from gene: NFS1. Tag treatable tag was added to 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)
Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: NFS1.
Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFS1 were set to
Phenotypes for gene: NFS1 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 52, OMIM:619386
Sarah Leigh: Associated with phenotype in O
gene: NFS1 was added gene: NFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NFS1 was set to Unknown Phenotypes for gene: NFS1 were set to No OMIM phenotype