Genomics England
GMS Panels
Panels
Genes and Entities

SPR

sepiapterin reductase
OMIM: 182125
PanelMode of inheritanceDetails
5 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
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
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
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
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716, Sepiapterin reductase deficiency (Disorders of pterin metabolism)