| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Motor Neurone Disease v0.138 | SLC52A2 |
Sangavi Sivagnanasundram changed review comment from: Well established gene causative of ALS - Phenotypic features typically seen with an early age of onset (within the first few years of life) PMID: 22864630 HEK293 in vitro functional assay was conducted that showed the reduced transporter activity compared to the wildtype in the presence of a SLC52A2 mutation.; to: Well established gene with overlapping phenotypic features consistent with ALS - Phenotypic features typically seen with an early age of onset (within the first few years of life) PMID: 22864630 HEK293 in vitro functional assay was conducted that showed the reduced transporter activity compared to the wildtype in the presence of a SLC52A2 mutation. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.138 | SLC52A2 | Sangavi Sivagnanasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072523, 22864630, 22740598, 20206331, 21110228; Phenotypes: Amyotrophic lateral sclerosis (ALS), Brown-Vialetto-van Laere syndrome 2 (MIM#614707) (BVVLS2); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.0 | SLC52A2 |
Zornitza Stark gene: SLC52A2 was added gene: SLC52A2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SLC52A2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||