Vitamin metabolism disorders
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disorders of riboflavin metabolism
- Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
- OMIM
- 613350
- Clinvar variants
- Variants in SLC52A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Vitamin metabolism disorders
- Deafness_IsolatedAndComplex
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Auditory Neuropathy
- Fatty Acid Oxidation Defects
- Motor Neurone Disease
- Fetal anomalies
- Central Hypoventilation
- Mendeliome
- Prepair 500+
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC52A3 was added gene: SLC52A3 was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 26973221 Phenotypes for gene: SLC52A3 were set to Disorders of riboflavin metabolism; Brown-Vialetto-van Laere syndrome 1 MONDO:0024537