GT/TP identifiers for the NHSE Digital Genomic Test Service are temporarily visible in PanelApp but are not yet in use in Genomics England systems

NDUFV1

NADH:ubiquinone oxidoreductase core subunit V1
OMIM: 161015, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green NDUFV1 in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy
Green NDUFV1 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
Green NDUFV1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial Leukoencephalopathy
Amber NDUFV1 in Optic neuropathy Level 2: Ophthalmology Version 6.47 Latest signed off version: v6.46 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Research Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 4, OMIM:618225 Tags Q2_26_promote_green Q2_26_NHS_review
Green NDUFV1 in Mitochondrial disorder with complex I deficiency Level 2: Mitochondrial Version 4.3 Latest signed off version: v4.2 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 4, 618225
Green NDUFV1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency
Green NDUFV1 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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 Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency
Green NDUFV1 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.18 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 4, 618225
Red NDUFV1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.3 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY
Green NDUFV1 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
Green NDUFV1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.68 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency 252010
Green NDUFV1 in Intellectual disability Level 2: Developmental disorders Version 11.9 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY
Green NDUFV1 in Mitochondrial disorders Level 2: Mitochondrial Version 10.19 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency
Red NDUFV1 in Dystonia, chorea or related movement disorder, adult onset Level 2: Neurology Version 6.8 Latest signed off version: v6.7 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Mitochondrial complex I deficiency, 252010
Amber NDUFV1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 8.5 Latest signed off version: v8.4 (12 Aug 2026) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 4, 618225
Green NDUFV1 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Mitochondrial complex I deficiency, 252010