Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SLC17A5

No list

SLC17A5 (solute carrier family 17 member 5)
EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 14 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ataxia is prominent in childhood.
Sources: Expert list
Created: 13 Sep 2020, 6:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialic acid storage disorder, infantile, MIM# 269920

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: SLC17A5 was added gene: SLC17A5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC17A5 were set to 26171070 Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, MIM# 269920 Review for gene: SLC17A5 was set to GREEN gene: SLC17A5 was marked as current diagnostic