Genomics England
GMS Panels
Panels
Genes and Entities

IVD

isovaleryl-CoA dehydrogenase
OMIM: 607036
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ISOVALERIC ACIDEMIA 243500
Green
in Diagnostic testing for Isovaleric acidaemia
R-numbers: R450
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isovaleric acidemia, OMIM:243500
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ISOVALERIC ACIDEMIA
Green
in Likely inborn error of metabolism
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections., Isovaleric acidemia, Isovaleric aciduria (Organic acidurias)