Brown-Vialetto-van Laere syndrome 2
MONDO:0013867Mondo
Findings
No curated finding names Brown-Vialetto-van Laere syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013867), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC52A2HGNC:30224
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Brown-Vialetto-van Laere syndrome 2
- Also called
- Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2Brown-Vialetto-Van Laere syndrome type 2BVVLS2SLC52A2 Brown-Vialetto-van Laere syndrome