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Inborn errors of metabolism

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 14 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in at least 6 cases of Sialic acid storage disorder, infantile269920 and at least 2 variants reported in at least 5 cases of Salla disease 604369.
Created: 17 Jan 2017, 1:11 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Unexplained skeletal dysplasia

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC17A5. Source London North GLH was added to SLC17A5.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SLC17A5 were changed from Salla disease, 604369 to Salla disease, 604369; Sialic acid storage disorder, infantile, 269920

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SLC17A5 were changed from to Salla disease, 604369

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SLC17A5 was added gene: SLC17A5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal