Genomics England
GMS Panels
Panels
Genes and Entities

NDUFA4

NDUFA4, mitochondrial complex associated
OMIM: 603833
PanelMode of inheritanceDetails
4 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, No OMIM phenotype
Green
in Mitochondrial disorder with complex IV deficiency
R-numbers: R356
Signed-off version 3.20
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, No OMIM phenotype
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype, Mitochondrial complex IV deficiency