Inherited bleeding disorders

Gene: SLC35A1

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Added watchlist tag.
Created: 18 Feb 2019, 4:12 p.m.
Added SLC35A1 to the 'Inherited bleeding disorders' panel with Amber rating as suggested by Helen Brittain, based on pattern of bleeding anomalies and macrothrombocytopaenia reported in PMID:15576474 (Martinez-Duncker, 2005. Note a 'leaky' polymorphism) and PMID:30115659 (Kauskot et al. 2018). More cases required for a diagnostic rating.
Sources: Literature
Created: 18 Feb 2019, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIf, 603585; severe thrombocytopenia; hemorrhages; macrothrombocytopenia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIf, 603585
  • severe thrombocytopenia
  • hemorrhages
  • macrothrombocytopenia
Tags
watchlist
OMIM
605634
Clinvar variants
Variants in SLC35A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: SLC35A1.

18 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc35a1 has been classified as Amber List (Moderate Evidence).

18 Feb 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: SLC35A1 was added gene: SLC35A1 was added to Inherited bleeding disorders. Sources: Literature Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 15576474; 30115659 Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, 603585; severe thrombocytopenia; hemorrhages; macrothrombocytopenia Review for gene: SLC35A1 was set to AMBER