Genomics England
GMS Panels
Panels
Genes and Entities

DHODH

dihydroorotate dehydrogenase (quinone)
OMIM: 126064
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POSTAXIAL ACROFACIAL DYSOSTOSIS, POADS = MILLER
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POSTAXIAL ACROFACIAL DYSOSTOSIS 263750
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POSTAXIAL ACROFACIAL DYSOSTOSIS
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miller syndrome 263750
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miller syndrome (postaxial acrofacial dysostosis) 263750