Mitochondrial disorders
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
single mutation report in literatureCreated: 4 Feb 2016, 7:06 p.m.
Gene: ndufa9 has been classified as Green List (High Evidence).
Phenotypes for gene: NDUFA9 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000 to Mitochondrial complex I deficiency, nuclear type 26, 618247
Source NHS GMS was added to NDUFA9. Source Expert Review Green was added to NDUFA9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: NDUFA9 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3 to Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000
Publications for gene: NDUFA9 were set to
Mode of inheritance for gene: NDUFA9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Victorian Clinical Genetics Services was added to NDUFA9. Panel: Mitochondrial disorders
NDUFA9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFA9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFA9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen