Childhood onset hereditary spastic paraplegia
Gene: SLC16A2EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Childhood onset, with features of spasticity. No additional patients identified using Sheffield panel.Created: 10 May 2019, 9:26 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Several publications in unrelated families with spasticity as clinicsl feature. In sheffields HSP panel. Victoria: GREENCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome 300523, XL
Arianna Tucci (Genomics England Curator)
Onset at birthCreated: 14 Jan 2019, 5:24 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Phenotypes
-
- Allan-Herndon-Dudley syndrome, OMIM:300523
- OMIM
- 300095
- Clinvar variants
- Variants in SLC16A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia
- DDG2P
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Inherited white matter disorders
- Fetal anomalies
- Congenital hypothyroidism
- Hyperthyroidism
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC16A2 were set to 12871948; 14661163; 19194886
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SLC16A2 were set to 12871948
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SLC16A2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC16A2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SLC16A2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Onset at birth
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, 300523
Created, Added New Source, Set mode of inheritance, Set publications
Sarah Leigh (Genomics England Curator)gene: SLC16A2 was added gene: SLC16A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green 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 Friesema et al. (2003)