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Childhood onset dystonia, chorea or related movement disorder v1.217 SLC16A2 Sarah Leigh commented on gene: SLC16A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.212 SLC16A2 Sarah Leigh Tag Q3_21_rating was removed from gene: SLC16A2.
Childhood onset dystonia, chorea or related movement disorder v1.212 SLC16A2 Sarah Leigh commented on gene: SLC16A2
Childhood onset dystonia, chorea or related movement disorder v1.211 SLC16A2 Sarah Leigh Source Expert Review Green was added to SLC16A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.146 SLC16A2 Arina Puzriakova Classified gene: SLC16A2 as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v1.146 SLC16A2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Childhood onset dystonia, chorea or related movement disorder v1.146 SLC16A2 Arina Puzriakova Gene: slc16a2 has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.145 SLC16A2 Arina Puzriakova Publications for gene: SLC16A2 were set to 31410843
Childhood onset dystonia, chorea or related movement disorder v1.144 SLC16A2 Arina Puzriakova Tag Q3_21_rating tag was added to gene: SLC16A2.
Childhood onset dystonia, chorea or related movement disorder v1.144 SLC16A2 Arina Puzriakova reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20713192, 22805248, 23419639, 24170966, 25160547, 25755011, 25900139, 27212794, 31410843; Phenotypes: Allan-Herndon-Dudley syndrome, OMIM:300523; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.144 SLC16A2 Arina Puzriakova Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, MIM# 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523
Childhood onset dystonia, chorea or related movement disorder v1.51 SLC16A2 Zornitza Stark 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
Added comment: 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 list