Epileptic encephalopathy
Gene: SLC16A2EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Allan-Herndon-Dudley syndrome
Publications
- Maranduba et al (2006) J Med Genet 43: 457_460
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Allan-Herndon-Dudley syndrome
Publications
- Maranduba et al (2006) J Med Genet 43: 457_460
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Allan-Herndon-Dudley syndrome
Publications
- Maranduba et al (2006) J Med Genet 43: 457_460
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Allan-Herndon-Dudley syndrome
Publications
- Maranduba et al (2006) J Med Genet 43: 457 460
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed with reviewer.Created: 29 Jan 2016, 5:16 p.m.
Comment on mode of inheritance: X-linked dominant in OMIM, hemizygous (X-linked recessive) in G2P.Created: 29 Jan 2016, 2:46 p.m.
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC16A2 were set to Allan-Herndon-Dudley syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC16A2 were set to Maranduba et al (2006) J Med Genet 43: 457_460
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC16A2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC16A2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SLC16A2 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SLC16A2 was added to Epileptic encephalopathypanel. Sources: UKGTN