Genomics England
GMS Panels
Panels
Genes and Entities

PDE1B

phosphodiesterase 1B
OMIM: 171891
PanelMode of inheritanceDetails
2 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
movement disorder, MONDO:0005395
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
movement disorder, MONDO:0005395