NDUFA4

NDUFA4, mitochondrial complex associated
OMIM: 603833, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green NDUFA4 in Mitochondrial disorder with complex IV deficiency Level 2: Mitochondrial Version 5.5 Latest signed off version: v5.4 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065 mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 Tags new-gene-name
Green NDUFA4 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 Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065 mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 Tags new-gene-name
Green NDUFA4 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065 mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 Tags new-gene-name
Green NDUFA4 in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	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 IV deficiency, nuclear type 21, OMIM:619065 mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 Tags new-gene-name
Red NDUFA4 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 8.7 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 Red MetBioNet NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065 mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656
Red NDUFA4 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	Not set	Sources Expert Review Red London North GLH