Rhabdomyolysis and Metabolic Myopathy
Gene: SLC52A3EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Phenotype can resemble Multiple Acyl-CoA Dehydrogenase Deficiency and can mimic a mitochondrial myopathy.
Sources: Expert listCreated: 6 Nov 2024, 9:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Definitive by ClinGen.Created: 1 Apr 2022, 12:26 a.m. | Last Modified: 1 Apr 2022, 12:26 a.m.
Panel Version: 0.12382
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc52a3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc52a3 has been classified as Green List (High Evidence).
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 Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 29193829; 31868069; 29053833; 26072523 Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Review for gene: SLC52A3 was set to GREEN gene: SLC52A3 was marked as current diagnostic