Craniosynostosis

Gene: SLC3A2

Red List (low evidence)

SLC3A2 (solute carrier family 3 member 2)
EnsemblGeneIds (GRCh38): ENSG00000168003
EnsemblGeneIds (GRCh37): ENSG00000168003
OMIM: 158070, Gene2Phenotype
SLC3A2 is in 1 panel

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

No OMIM disorder? Mouse models are defective in integrin dependent cell spreading and cell migration. On Fulgent CSS panel. Previously called CD98 or 4F2HC ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
no disorder assigned on OMIM - possible role in immune function based on mouse studies.

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SLC3A2; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
Phenotypes
  • no disorder assigned on OMIM - possible role in immune function based on mouse studies.
OMIM
158070
Clinvar variants
Variants in SLC3A2
Penetrance
None
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes no disorder assigned on OMIM - possible role in immune function based on mouse studies. for gene: SLC3A2

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SLC3A2 was added gene: SLC3A2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SLC3A2 was set to