Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SLC17A5

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). There is enough evidence to promote this gene to Green at the next GMS panel update.

Associated with relevant phenotypes in OMIM and has a 'confirmed' disease confidence rating in G2P. At least 6 variants reported in at least 6 cases of Sialic acid storage disorder, infantile (MIM# 269920) and at least 2 variants reported in at least 5 cases of Salla disease (MIM# 604369). Cerebellar ataxia is a main presenting feature of this disorder, typically arising within the first year of life.
Created: 21 Jun 2021, 2:41 p.m. | Last Modified: 21 Jun 2021, 2:41 p.m.
Panel Version: 2.205

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

21 Jun 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SLC17A5.

21 Jun 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SLC17A5 were set to 26171070

21 Jun 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

21 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: slc17a5 has been classified as Amber List (Moderate Evidence).

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