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Inborn errors of metabolism

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)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

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, 11:36 a.m. | Last Modified: 31 Oct 2019, 11:36 a.m.
Panel Version: 1.385

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
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Congenital disorder of glycosylation, type IIm 300896
  • SLC35A2-CDG (other congenital disorders of glycosylation)
OMIM
314375
Clinvar variants
Variants in SLC35A2
Penetrance
None
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).

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).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC35A2. Source London North GLH was added to SLC35A2.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type IIm 300896 for gene: SLC35A2 Publications for gene SLC35A2 were changed from 27604308 to 27743886; 25778940; 23561849

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SLC35A2 was added gene: SLC35A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLC35A2 were set to 27604308 Phenotypes for gene: SLC35A2 were set to Intellectual disability; SLC35A2-CDG (other congenital disorders of glycosylation)