Childhood onset dystonia, chorea or related movement disorder

Gene: PDE1B

Green List (high evidence)

Comment on list classification: There are four unrelated families reported with childhood onset dystonia. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 18 Jul 2025, 9:28 p.m. | Last Modified: 18 Jul 2025, 9:28 p.m.

Panel Version: 7.3

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. Dystonia has been reported in five patients from four families. Functional evidence is also available for these variants.

This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen.
Sources: Literature

Created: 18 Jul 2025, 9:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
movement disorder, MONDO:0005395

Publications

• 40492975