Ataxia - paediatric
Gene: SLC17A5
Overview of phenotypic features recently published by Huizing et al. Severity correlated with level of free sialic acid (N-acetylneuraminic acid, Neu5Ac) in urine.Created: 3 Jan 2022, 11:13 p.m. | Last Modified: 3 Jan 2022, 11:13 p.m.
Panel Version: 0.10448
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Ataxia is a feature of this neurodegenerative disorder.Created: 17 Apr 2020, 12:55 a.m. | Last Modified: 17 Apr 2020, 12:55 a.m.
Panel Version: 0.147
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sialic acid storage disorder, infantile, MIM# 269920
Publications
Publications for gene: SLC17A5 were set to
Gene: slc17a5 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC17A5 were changed from Salla disease; Sialic acid storage disease, severe infantile type to Salla disease; Sialic acid storage disease, severe infantile type, MIM# 269920
gene: SLC17A5 was added gene: SLC17A5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Salla disease; Sialic acid storage disease, severe infantile type