Possible mitochondrial disorder - nuclear genes
Gene: SLC52A2
SLC52A2 (solute carrier family 52 member 2)
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 16 panels
1 review
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 2, 614707
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Brown-Vialetto-Van Laere syndrome 2, 614707
- OMIM
- 607882
- Clinvar variants
- Variants in SLC52A2
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Optic neuropathy
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Paediatric motor neuronopathies
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
- Fetal anomalies
History Filter Activity
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SLC52A2 was added gene: SLC52A2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707