Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SLC52A2

No list

SLC52A2 (solute carrier family 52 member 2)
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 18 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Generally presents with a range of neuropathies but ataxia described. Treatable condition.
Sources: Expert list
Created: 13 Sep 2020, 6:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brown-Vialetto-Van Laere syndrome 2, MIM# 614707

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

13 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SLC52A2 was added gene: SLC52A2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 30377535 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Review for gene: SLC52A2 was set to GREEN gene: SLC52A2 was marked as current diagnostic