Hereditary neuropathy
Gene: SLC52A2EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 16 panels
6 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)
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Added the 'treatable' tag, as riboflavin treatment may be beneficial to patients.Created: 13 Aug 2018, 4:38 p.m.
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, 1:34 p.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 5 May 2016, 10:19 a.m.
Alexander Rossor (UCL Institute of Neurology)
BVVLCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mary Reilly (Institute of Neurology)
BVVLCreated: 8 Dec 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Tags
- OMIM
- 607882
- Clinvar variants
- Variants in SLC52A2
- Penetrance
- Complete
- Publications
-
- Brown-Vialetto-Van Laere syndrome 2
- BVVL
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Paediatric motor neuronopathies
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC52A2.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SLC52A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2; BVVL
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC52A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SLC52A2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list