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DDG2P

Gene: PDE1B

No list
PDE1B (phosphodiesterase 1B)
EnsemblGeneIds (GRCh38): ENSG00000123360
EnsemblGeneIds (GRCh37): ENSG00000123360
OMIM: 171891, Gene2Phenotype
PDE1B is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype (G2P) on their DDG2P panel. PDE1B is currently not associated with any disease models in G2P and therefore the grey rating will be maintained on this panel at this time.

PDE1B has already been curated on other GMS panels with a green recommendation (Childhood onset dystonia, chorea or related movement disorder and Ataxia and cerebellar anomalies) to capture the evidence and ensure inclusion of this gene in the NHS GMS.
Created: 2 Sep 2025, 3:10 p.m. | Last Modified: 2 Sep 2025, 3:10 p.m.
Panel Version: 6.4
Created: 2 Sep 2025, 3:10 p.m.
Last Modified: 2 Sep 2025, 3:10 p.m.
Panel version: 6.4

Sarah Dixon (Leeds Teaching Hospitals NHS Trust)

Green List (high evidence)

PMID: 40492975
Biallelic LOF variants in PDE1B identified in seven individuals from five different families
Disorder characterized by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with developmental delay and intellectual disability
Sources: Literature
Created: 17 Jun 2025, 10:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypotonia; ataxia; dystonia; developmental delay; intellectual disability

Publications

Created: 17 Jun 2025, 10:27 a.m.

Panel version: 6.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • hypotonia
  • ataxia
  • dystonia
  • developmental delay
  • intellectual disability
Tags
curated_removed
OMIM
171891
Clinvar variants
Variants in PDE1B
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

13 Oct 2025, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: PDE1B.

2 Sep 2025, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pde1b has been removed from the panel.

17 Jun 2025, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Sarah Dixon (Leeds Teaching Hospitals NHS Trust)

gene: PDE1B was added gene: PDE1B was added to DDG2P. Sources: Literature Mode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE1B were set to PMID: 40492975 Phenotypes for gene: PDE1B were set to hypotonia; ataxia; dystonia; developmental delay; intellectual disability Penetrance for gene: PDE1B were set to unknown Review for gene: PDE1B was set to GREEN