Possible mitochondrial disorder - nuclear genes
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
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 1, 211530
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Brown-Vialetto-Van Laere syndrome 1, 211530
- OMIM
- 613350
- Clinvar variants
- Variants in SLC52A3
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- 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
- Amyotrophic lateral sclerosis/motor neuron disease
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
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: SLC52A3 was added gene: SLC52A3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530