Likely inborn error of metabolism - targeted testing not possible
Gene: NDUFA9Comment 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.
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
Variants in this GENE are reported as part of current diagnostic practice
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 panelsCreated: 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
single mutation report in literatureCreated: 4 Feb 2016, 7:06 p.m.
Source Expert Review Green was added to NDUFA9. Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9 Publications for gene NDUFA9 were changed from 27604308 to 28671271; 22114105 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to NDUFA9. Source London North GLH was added to NDUFA9.
Sarah Leigh: Associated with phenotype in O
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: NDUFA9 Publications for gene NDUFA9 were changed from to 27604308
gene: NDUFA9 was added gene: NDUFA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3; Isolated complex I deficiency