Hereditary spastic paraplegia
Gene: SLC16A2EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 panels
1 review
helen kingston (CMFT NHS Foundation Trust, Manchester)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Allan-Herndon-Dudley syndrome, OMIM:300523
- OMIM
- 300095
- Clinvar variants
- Variants in SLC16A2
- Penetrance
- Complete
- Publications
-
- Friesema et al. (2003)
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Congenital hypothyroidism
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Hyperthyroidism
- Fetal anomalies
- DDG2P
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, OMIM:300523
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for SLC16A2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC16A2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC16A2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)SLC16A2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list