Leukodystrophy - adult onset

Gene: SLC17A5

Green List (high evidence)

SLC17A5 (solute carrier family 17 member 5)
EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 16 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

White matter changes are described in Less Severe FSASD (Salla Disease) caused by SCL17A5
Created: 13 Sep 2023, 3:50 a.m. | Last Modified: 13 Sep 2023, 3:50 a.m.
Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salla disease MONDO:0011449

Publications

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC17A5 was added gene: SLC17A5 was added to Leukodystrophy - adult onset_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 General Leukodystrophy & Mitochondrial Leukoencephalopathy