Possible mitochondrial disorder - nuclear genes
Gene: NFS1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 1:12 p.m. | Last Modified: 1 Feb 2023, 1:12 p.m.
Panel Version: 2.5
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, 8:47 a.m. | Last Modified: 31 Aug 2022, 8:47 a.m.
Panel Version: 1.153
Also now 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, 8:45 a.m. | Last Modified: 31 Aug 2022, 8:45 a.m.
Panel Version: 1.151
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on evidence provided in PMID:24498631Created: 30 Aug 2022, 9:31 a.m. | Last Modified: 31 Aug 2022, 8:43 a.m.
Panel Version: 1.151
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 52, OMIM: 619386
Publications
Variants in this GENE are reported as part of current diagnostic practice
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (3 individuals) with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile mitochondrial complex II/III deficiency
Publications
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 2:01 p.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile mitochondrial complex II/III deficiency
Publications
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.
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).
Publications for gene: NFS1 were set to 24498631
Tag Q3_22_rating tag was added to gene: NFS1.
Phenotypes for gene: NFS1 were changed from Infantile mitochondrial complex II/III deficiency to Combined oxidative phosphorylation deficiency 52, OMIM:619386
Gene: nfs1 has been classified as Amber List (Moderate Evidence).
gene: NFS1 was added gene: NFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFS1 were set to 24498631 Phenotypes for gene: NFS1 were set to Infantile mitochondrial complex II/III deficiency