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Undiagnosed metabolic disorders

Gene: SLC35A2

Green List (high evidence)

SLC35A2 (solute carrier family 35 member A2)
EnsemblGeneIds (GRCh38): ENSG00000102100
EnsemblGeneIds (GRCh37): ENSG00000102100
OMIM: 314375, Gene2Phenotype
SLC35A2 is in 8 panels

3 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

SLC35A2 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.

PMID: 30746764 reports on 15 patients (11 female, 4 male) with variants in SLC35A2.
Created: 31 Oct 2019, 11:38 a.m. | Last Modified: 31 Oct 2019, 11:38 a.m.
Panel Version: 1.406

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Congenital disorder of glycosylation, type IIm, 300896

Publications

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' in order to capture variants within this gene in our current tiering pipeline.
Created: 5 Apr 2017, 9:43 a.m.

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 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
Other - please specify in evaluation comments

Phenotypes
Intellectual disability

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • SLC35A2-CDG (other congenital disorders of glycosylation)
  • Intellectual disability
OMIM
314375
Clinvar variants
Variants in SLC35A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: slc35a2 has been classified as Green List (High Evidence).

5 Apr 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC35A2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

27 Feb 2017, Gel status: 2

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

6 Jan 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

SLC35A2 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene SLC35A2 was set to Other - please specify in evaluation comments

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SLC35A2 was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC35A2 was created by sleigh