NDUFAF6

NADH:ubiquinone oxidoreductase complex assembly factor 6
OMIM: 612392, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green NDUFAF6 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000
Green NDUFAF6 in Mitochondrial disorder with complex I deficiency Level 2: Mitochondrial Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17, 612392
Green NDUFAF6 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Leigh syndrome due to mitochondrial complex I deficiency, 256000
Green NDUFAF6 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency
Green NDUFAF6 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17, 612392
Green NDUFAF6 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex I deficiency Leigh syndrome due to mitochondrial complex I deficiency, 256000
Red NDUFAF6 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Leigh syndrome due to mitochondrial complex I deficiency
Red NDUFAF6 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17, 612392
Green NDUFAF6 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000