Childhood onset dystonia, chorea or related movement disorder

Gene: HECW2

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 6:27 p.m. | Last Modified: 30 Jan 2023, 6:31 p.m.

Panel Version: 2.10

Green List (high evidence)

Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update. Motor dysfunction is a key feature in majority of cases and of all individuals aged 5 years or older, only 7/12 could walk, although often with limited capacity. Therefore, inclusion of HECW2 on this panel could present potential diagnostic benefit.

Created: 13 Jul 2022, 2:49 p.m. | Last Modified: 13 Jul 2022, 2:49 p.m.

Panel Version: 1.240

Acharya et al., 2022 (PMID: 34321324) released a review of 35 previously published and new unpublished cases harbouring HECW2 variants. Clinical characteristics in all individuals included ID/DD and hypotonia with or without spasticity. The review also highlighted motor coordination/movement deficits in 21/28 subjects (75%). Stereotypic movements were the most common (15) but dystonia (4) and chorea (3) are also reported.
Sources: Literature

Created: 13 Jul 2022, 2:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268

Publications

• 27389779
• 27334371
• 34321324