Possible mitochondrial disorder - nuclear genes

Gene: NFS1

Green List (high evidence)

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

Green List (high evidence)

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:24498631

Created: 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

• 24498631
• 33457206

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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 studies

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile mitochondrial complex II/III deficiency

Publications

• 24498631

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.

Green List (high evidence)

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

• 24498631

Red List (low evidence)

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

• 24498631

Green List (high evidence)