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  2. Lysosomal storage disorder
  3. SLC17A5
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Lysosomal storage disorder

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 13 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salla disease 604369; Sialic acid storage disorder, infantile 269920

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Salla disease OMIM:604369
  • Salla disease MONDO:0011449
  • Sialic acid storage disorder, infantile OMIM:269920
  • free sialic acid storage disease, infantile form MONDO:0010027
OMIM
604322
Clinvar variants
Variants in SLC17A5
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC17A5 were changed from Salla disease 604369; Sialic acid storage disorder, infantile 269920 to Salla disease OMIM:604369; Salla disease MONDO:0011449; Sialic acid storage disorder, infantile OMIM:269920; free sialic acid storage disease, infantile form MONDO:0010027

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SLC17A5 was added gene: SLC17A5 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Salla disease 604369; Sialic acid storage disorder, infantile 269920