Paediatric motor neuronopathies
Gene: SLC52A3
many families reported
well characterised phenotypeCreated: 2 Mar 2017, 4:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome; infantile motor neuronopathy; deafness; respiratory insufficiency
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Publications for SLC52A3 were set to 20206331; 20920669
Mode of pathogenicity for SLC52A3 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SLC52A3 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN
SLC52A3 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen