Ataxia and cerebellar anomalies - narrow panel
Gene: SLC17A5EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 13 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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)
Ataxia is prominent in childhood.
Sources: Expert listCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Salla disease, OMIM:604369
- Sialic acid storage disorder, infantile, OMIM:269920
- OMIM
- 604322
- Clinvar variants
- Variants in SLC17A5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Fetal hydrops
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: SLC17A5.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to SLC17A5. Source NHS GMS was added to SLC17A5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SLC17A5.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC17A5 were set to 26171070
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
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc17a5 has been classified as Amber List (Moderate Evidence).
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