Hereditary neuropathy
Gene: SLC52A3
SLC52A3 (solute carrier family 52 member 3)
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels
4 reviews
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, 5 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Richard Scott (Genomics England Curator)
Comment on list classification: Brown-Vialetto-Van Laere Syndrome 1Created: 8 Jul 2016, 4:15 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of dHMN.Created: 10 Jun 2016, 1:48 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Phenotypes
-
- dHMN
- Brown-Vialetto-Van Laere syndrome 1
- Fazio-Londe disease
- OMIM
- 613350
- Clinvar variants
- Variants in SLC52A3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Amyotrophic lateral sclerosis/motor neuron disease
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
29 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC52A3.
29 Apr 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SLC52A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
8 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
8 Jul 2016, Gel status: 4
Set publications
Richard Scott (Genomics England Curator)Publications for SLC52A3 were set to 20206331
8 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 Jun 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
10 Jun 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SLC52A3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list
10 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC52A3 was created by ellenmcdonagh