Hereditary ataxia, adult onset
Gene: SLC52A2EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple reports and variants in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bwon-Vialetto-Van Laere syndrome 2
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Bwon-Vialetto-Van Laere syndrome 2, 614707
- OMIM
- 607882
- Clinvar variants
- Variants in SLC52A2
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Paediatric motor neuronopathies
- Undiagnosed metabolic disorders
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Possible mitochondrial disorder, nuclear genes
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Hereditary neuropathy
- Amyotrophic lateral sclerosis/motor neuron disease
- DDG2P
- Hereditary ataxia, adult onset
- Mitochondrial disorders
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SLC52A2 were changed from Bwon-Vialetto-Van Laere syndrome 2 to Bwon-Vialetto-Van Laere syndrome 2, 614707
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SLC52A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: slc52a2 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Bwon-Vialetto-Van Laere syndrome 2 for gene: SLC52A2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC52A2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SLC52A2 was added gene: SLC52A2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC52A2 was set to