Adult onset hereditary spastic paraplegia
Gene: SLC16A2EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Arina Puzriakova (Genomics England Curator)
Review of literature did not reveal any adult onset cases - neonatal and early childhood onset only.
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 24 Aug 2021, 2:02 p.m. | Last Modified: 24 Aug 2021, 2:02 p.m.
Panel Version: 1.57
Phenotypes
Allan-Herndon-Dudley syndrome, OMIM:300523
Publications
Zornitza Stark (Australian Genomics)
Childhood onset.Created: 22 Sep 2020, 5:18 a.m. | Last Modified: 22 Sep 2020, 5:18 a.m.
Panel Version: 1.7
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Childhood onset, with features of spasticity. No additional patients identified using Sheffield panel. No reports of adult onset.Created: 10 May 2019, 9:27 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Louise Daugherty (Genomics England Curator)
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 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: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome, 300523, XL
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- 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
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_phenotype was removed from gene: SLC16A2.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to SLC16A2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_phenotype tag was added to gene: SLC16A2.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC16A2 were set to 14661163; 19194886
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523, XL to Allan-Herndon-Dudley syndrome, OMIM:300523
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SLC16A2 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SLC16A2.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to SLC16A2. Mode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Allan-Herndon-Dudley syndrome, 300523, XL for gene: SLC16A2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC16A2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SLC16A2 was added gene: SLC16A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC16A2 was set to