Multiple Epiphyseal Dysplasia
Gene: SLC26A2Comment 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.
SLC26A2-related MED may be distinguished by some distinctive radiological findings.Created: 2 Dec 2015, 10:54 a.m.
Mode of pathogenicity
Other
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
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC26A2 were set to multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Recessive; Epiphyseal dysplasia, multiple, 4
Publications for SLC26A2 were set to PMID: 21922596
Mode of inheritance for SLC26A2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC26A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
SLC26A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services