Likely inborn error of metabolism

Gene: NDUFA9

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).

Created: 23 May 2019, 2:43 p.m.

Comment on phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, 256000 was previously listed for this gene, however, NDUFA9 is not associated with this phenotyped in OMIM.

Created: 23 May 2019, 2:42 p.m.

Comment on list classification: Promoted to Amber due to additional reports for 2 cases (see publications).

Created: 29 Mar 2019, 10:55 a.m.

I don't know

Two patients from unrelated families reported in the literature with bi-allelic variants in this gene. Merits Amber?

Created: 31 Aug 2018, 4:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000

Publications

• 28671271
• 22114105

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

Red List (low evidence)

PMID: 22114105 only one published case in the literature to date (1 affected) due to homozygous c.962G>C, p.R321P. Variants of NDUFA9 cause affect mitochondrial respiratory chain complex I. On Radboud MENDELIOME/MCA MITOCHONDRIAL DISORDERS panels

Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, 256000

Publications

• 22114105

Green List (high evidence)

single mutation report in literature

Created: 4 Feb 2016, 7:06 p.m.