Genomics England
GMS Panels
Panels
Genes and Entities

PTS

6-pyruvoyltetrahydropterin synthase
OMIM: 612719
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-Pyruvoyltetrahydropterin Synthase Deficiency, Dystonia, 6-Pyruvoyl-tetrahydropterin synthase deficiency, Hyperphenylalaninemia, BH4-deficient, A, 261640
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, A, 261640
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism), Hyperphenylalaninemia, BH4-deficient, A 261640