Multiple Epiphyseal Dysplasia
Gene: SLC26A2EnsemblGeneIds (GRCh38): ENSG00000155850
EnsemblGeneIds (GRCh37): ENSG00000155850
OMIM: 606718, Gene2Phenotype
SLC26A2 is in 8 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 5 Feb 2016, 3:57 p.m.
Comment on list classification: Confirmed DD gene for multiple epiphyseal dysplasia type 4.Created: 5 Feb 2016, 3:57 p.m.
Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )
SLC26A2-related MED may be distinguished by some distinctive radiological findings.Created: 2 Dec 2015, 10:54 a.m.
Mode of pathogenicity
Other
Michael Briggs (Newcastle University)
Mutations in SLC26A2 cause recessive forms of MED. Autosomal recessive MED (rMED) accounts for approximately one-fourth of total MED cases. This relatively high incidence is driven by the frequency of the p.R279W mutation, which is by far the most common SLC26A2 mutation in the European populationCreated: 16 Oct 2015, 2:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
multiple epiphyseal dysplasia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- multiple epiphyseal dysplasia
- Multiple Epiphyseal Dysplasia, Recessive
- Epiphyseal dysplasia, multiple, 4
- OMIM
- 606718
- Clinvar variants
- Variants in SLC26A2
- Penetrance
- Complete
- Publications
-
- PMID: 21922596
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC26A2 were set to multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Recessive; Epiphyseal dysplasia, multiple, 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC26A2 were set to PMID: 21922596
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC26A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()SLC26A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()SLC26A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services