Childhood onset dystonia, chorea or related movement disorder
Gene: SLC16A2The 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: 24 Aug 2021, 2:04 p.m. | Last Modified: 24 Aug 2021, 2:04 p.m.
Panel Version: 1.146
Dystonia, dyskinesia and choreoathetoid movements have all been reported in cases, and are often an early feature in the course of disease.Created: 24 Aug 2021, 2:04 p.m. | Last Modified: 24 Aug 2021, 2:04 p.m.
Panel Version: 1.144
Phenotypes
Allan-Herndon-Dudley syndrome, OMIM:300523
Publications
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications.
Sources: Expert listCreated: 10 Sep 2020, 8:07 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome, MIM# 300523
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: SLC16A2.
Source Expert Review Green was added to SLC16A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: slc16a2 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC16A2 were set to 31410843
Tag Q3_21_rating tag was added to gene: SLC16A2.
Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, MIM# 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523
gene: SLC16A2 was added gene: SLC16A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 31410843 Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MIM# 300523 Review for gene: SLC16A2 was set to GREEN gene: SLC16A2 was marked as current diagnostic