Genomics England
GMS Panels
Panels
Genes and Entities

PCBD1

pterin-4 alpha-carbinolamine dehydratase 1
OMIM: 126090
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, D
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, D, 264070, Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)