Mitochondrial disorders

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, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.

Panel Version: 3.6

Green List (high evidence)

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.

Green List (high evidence)

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

• 24498631
• 33457206

Green List (high evidence)