This Panel is marked as Retired
Epilepsy Plus
Gene: SLC16A2
SLC16A2 (solute carrier family 16 member 2)
EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Allan-Herndon-Dudley syndrome
- OMIM
- 300095
- Clinvar variants
- Variants in SLC16A2
- Penetrance
- Complete
- Publications
-
- Maranduba et al (2006) J Med Genet 43: 457_460
- Panels with this gene
-
- Intellectual disability
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- Congenital hypothyroidism
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Hyperthyroidism
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SLC16A2 was added to Epilepsy Pluspanel. Sources: UKGTN,Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC16A2 was created by ellenmcdonagh