NDUFA12

NADH:ubiquinone oxidoreductase subunit A12
OMIM: 614530, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green NDUFA12 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green South West GLH PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in Mitochondrial disorder with complex I deficiency Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green South West GLH PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Red NDUFA12 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Red NDUFA12 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244
Red NDUFA12 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Red NDUFA12 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Green NDUFA12 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green PanelApp South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244