Motor Neurone Disease
Gene: SLC52A3

SLC52A3 (solute carrier family 52 member 3)
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene with overlapping phenotypic features consistent with ALS with LoF as mechanism of disease (PMID: 26072523)
Created: 18 May 2023, 4:37 a.m. | Last Modified: 18 May 2023, 4:37 a.m.

Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amytrophic Lateral Sclerosis (ALS); Brown-Vialetto-van Laere syndrome 1 (MIM# 211530)

Publications

26072523

Created: 18 May 2023, 4:37 a.m.
Last Modified: 18 May 2023, 4:37 a.m.
Panel version: 0.138

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 1 Apr 2022, 12:26 a.m.
Last Modified: 1 Apr 2022, 12:26 a.m.
Panel version: Imported from Mendeliome panel version 0.12382

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Amytrophic Lateral Sclerosis (ALS)
Brown-Vialetto-van Laere syndrome 1 (MIM# 211530)

OMIM

613350

Clinvar variants

Variants in SLC52A3

Penetrance

None

Publications

26072523

Panels with this gene