NDUFA12

NADH:ubiquinone oxidoreductase subunit A12
OMIM: 614530, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber NDUFA12 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic tetraparesis intellectual disability encephalopathy
Green NDUFA12 in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 23 618244
Green NDUFA12 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.45 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes isolated optic atrophy MONDO:0003608
Green NDUFA12 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	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 23 618244
Red NDUFA12 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 23 618244
Green NDUFA12 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 23 618244