Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SLC3A2
SLC3A2 (solute carrier family 3 member 2)
EnsemblGeneIds (GRCh38): ENSG00000168003
EnsemblGeneIds (GRCh37): ENSG00000168003
OMIM: 158070, Gene2Phenotype
SLC3A2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000168003
EnsemblGeneIds (GRCh37): ENSG00000168003
OMIM: 158070, Gene2Phenotype
SLC3A2 is in 1 panel
2 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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 WilkieCreated: 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)
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: redCreated: 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