Childhood onset dystonia, chorea or related movement disorder
Gene: HECW2
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
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Acharya et al., 2022 (PMID: 34321324) released a review of 35 previously published and new unpublished cases harbouring HECW2 variants.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: LiteratureCreated: 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
Tag Q3_22_rating was removed from gene: HECW2.
Source Expert Review Green was added to HECW2. Source NHS GMS was added to HECW2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: hecw2 has been classified as Amber List (Moderate Evidence).
gene: HECW2 was added gene: HECW2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Q3_22_rating tags were added to gene: HECW2. Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HECW2 were set to 27389779; 27334371; 34321324 Phenotypes for gene: HECW2 were set to Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268 Review for gene: HECW2 was set to GREEN