Paroxysmal Dyskinesia
Gene: SLC16A2EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 9 Sep 2020, 10:02 a.m. | Last Modified: 9 Sep 2020, 10:02 a.m.
Panel Version: 0.46
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome, MIM# 300523
Publications
Eunice Chan (Royal Children's Hospital)
X-linked inheritance
Allan-Herndon-Dudley Syndrome
paroxysmal dystonic dyskinesia triggered by poassive movements, excitement, crying
High fT3 also characteristic
Please also include on dystonia-Complex panel
Sources: Expert listCreated: 9 Sep 2020, 3:22 a.m.
Mode of inheritance
Other
Phenotypes
paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia
Publications
- PMID 20301789
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Allan-Herndon-Dudley syndrome, MIM# 300523
- paroxysmal dyskinesia (passive movement trigger)
- neurodevelopmental disability, hypotonia
- OMIM
- 300095
- Clinvar variants
- Variants in SLC16A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Mackenzie's Mission_Reproductive Carrier Screening
- Hyperthyroidism
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Congenital hypothyroidism
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc16a2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC16A2 were changed from paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia to Allan-Herndon-Dudley syndrome, MIM# 300523; paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC16A2 were set to PMID 20301789
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC16A2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc16a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eunice Chan (Royal Children's Hospital)gene: SLC16A2 was added gene: SLC16A2 was added to Paroxysmal Dyskinesia. Sources: Expert list Mode of inheritance for gene: SLC16A2 was set to Other Publications for gene: SLC16A2 were set to PMID 20301789 Phenotypes for gene: SLC16A2 were set to paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia