Childhood onset dystonia, chorea or related movement disorder
Gene: DHDDSThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.Created: 28 Oct 2021, 2:27 p.m. | Last Modified: 28 Oct 2021, 2:27 p.m.
Panel Version: 1.166
Monoallelic variants are associated with a neurodevelopmental disorder comprising infantile or childhood-onset DD/ID, epilepsy and a variable movement phenotype which typically initially manifests as action myoclonus/cortical tremor and in some cases ataxia, later progressing to hyperkinetic and/or hypokinetic movement disorder. Motor defects can be a presenting sign indicated at onset. An informative description of the movement phenotype is provided by Galosi et al. 2021 (PMID: 34382076). >3 unrelated individuals reported in literature.Created: 28 Oct 2021, 2:26 p.m. | Last Modified: 28 Oct 2021, 2:26 p.m.
Panel Version: 1.162
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Publications
Tag Q4_21_rating was removed from gene: DHDDS.
Source Expert Review Green was added to DHDDS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: dhdds has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DHDDS were changed from to Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Publications for gene: DHDDS were set to
Mode of inheritance for gene: DHDDS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tag Q4_21_rating tag was added to gene: DHDDS.
gene: DHDDS was added gene: DHDDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DHDDS was set to