Likely inborn error of metabolism - targeted testing not possible
Gene: SLC35A2
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
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.
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
Gene: slc35a2 has been classified as Green List (High Evidence).
Gene: slc35a2 has been classified as Green List (High Evidence).
Source NHS GMS was added to SLC35A2. Source London North GLH was added to SLC35A2.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Congenital disorder of glycosylation, type IIm 300896 for gene: SLC35A2 Publications for gene SLC35A2 were changed from 27604308 to 27743886; 25778940; 23561849
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)