NDUFA2

NADH:ubiquinone oxidoreductase subunit A2
OMIM: 602137, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green NDUFA2 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Amber NDUFA2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Amber NDUFA2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Green NDUFA2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Green NDUFA2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Green NDUFA2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Green NDUFA2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 13, MIM#618235
Amber NDUFA2 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 13 618235 leukoencephalopathy
Green NDUFA2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 13, 618235