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  3. SLC16A2
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Childhood onset dystonia, chorea or related movement disorder

Gene: SLC16A2

Green List (high evidence)
SLC16A2 (solute carrier family 16 member 2)
EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The 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
Created: 3 Mar 2022, 4:45 p.m.
Last Modified: 3 Mar 2022, 4:45 p.m.
Panel version: 1.217

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Created: 24 Aug 2021, 2:04 p.m.
Last Modified: 24 Aug 2021, 2:04 p.m.
Panel version: 1.144

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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
Created: 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

Created: 10 Sep 2020, 8:07 a.m.

Panel version: 1.51

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating was removed from gene: SLC16A2.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SLC16A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

24 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: slc16a2 has been classified as Amber List (Moderate Evidence).

24 Aug 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SLC16A2 were set to 31410843

24 Aug 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: SLC16A2.

24 Aug 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, MIM# 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523

10 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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