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  3. SLC35A1
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Likely inborn error of metabolism

Gene: SLC35A1

Green List (high evidence)
SLC35A1 (solute carrier family 35 member A1)
EnsemblGeneIds (GRCh38): ENSG00000164414
EnsemblGeneIds (GRCh37): ENSG00000164414
OMIM: 605634, Gene2Phenotype
SLC35A1 is in 9 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green following promotion of SLC35A1 to Green on the component panel 'Congenital disorders of glycosylation'.
Created: 18 Feb 2019, 3:45 p.m.
Created: 18 Feb 2019, 3:45 p.m.

Panel version: 1.49

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 3 variants reported in 2 patients. Variant rs10638303 is common, resulting in 5 different transcript variants: wildtype gene (47%), partial skipping of exon 6 (29%), full skipping of exon 6 (14%), full skipping of exons 5 and 6 (9%), and partial skipping of exon 6 plus full skipping of exon 3 (1%). The authors referred to this polymorphism as 'leaky,' allowing for the expression of enough wildtype transcripts even in homozygous individuals to avoid the disease (from PMID 15576474)
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type IIf 603585
  • Congenital disorder of glycosylation, type Iif, 603585
  • CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
OMIM
605634
Clinvar variants
Variants in SLC35A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc35a1 has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC35A1 were set to 27604308

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC35A1. Source London North GLH was added to SLC35A1.

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 Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35A1 Publications for gene SLC35A1 were changed from 23873973; 15576474 to 27604308

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SLC35A1 was added gene: SLC35A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 23873973; 15576474 Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)