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Intellectual disability

Gene: PDE1B

Amber List (moderate evidence)
PDE1B (phosphodiesterase 1B)
EnsemblGeneIds (GRCh38): ENSG00000123360
EnsemblGeneIds (GRCh37): ENSG00000123360
OMIM: 171891, Gene2Phenotype
PDE1B is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: Intellectual disability was reported with the severity of moderate or above in only one patient and was either mild or severity not reported in others. Hence, this gene can only be rated amber with the current evidence.
Created: 21 Jul 2025, 11:48 a.m. | Last Modified: 21 Jul 2025, 11:48 a.m.
Panel Version: 9.41
As reviewed by Sarah Dixon, PMID:40492975 reported seven individuals from five unrelated families identified with biallelic PDE1B variants. Three truncating (p.Gln45Ter, p.Gln86Ter, p.Ser298Alafs*6) and three splicing variants (c.594 + 2 T>G, c.735 + 5G>A, c.837-1G>C) were identified from these patients in total.

They presented with an early-onset movement disorder characterised by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with motor and speech delay, and intellectual disability (ID). ID was moderate in one patient, mild in three and severity not reported in one patient (ID noticed at the age of three years).

This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen.
Created: 18 Jul 2025, 8:41 p.m. | Last Modified: 18 Jul 2025, 9:22 p.m.
Panel Version: 9.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
movement disorder, MONDO:0005395; intellectual disability, MONDO:0001071

Publications

Created: 18 Jul 2025, 8:41 p.m.
Last Modified: 18 Jul 2025, 9:22 p.m.
Panel version: 9.38

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, 10:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 17 Jun 2025, 10:34 a.m.

Panel version: 9.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • movement disorder, MONDO:0005395
  • intellectual disability, MONDO:0001071
OMIM
171891
Clinvar variants
Variants in PDE1B
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

21 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: pde1b has been classified as Amber List (Moderate Evidence).

18 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: pde1b has been classified as Amber List (Moderate Evidence).

18 Jul 2025, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PDE1B were changed from hypotonia; ataxia; dystonia; developmental delay; intellectual disability to movement disorder, MONDO:0005395; intellectual disability, MONDO:0001071

18 Jul 2025, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PDE1B were set to PMID: 40492975

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 Intellectual disability. 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