Skeletal dysplasia
Gene: SLC26A2
Gene previously called DTDST. Sulphation disorders group of SD. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACG1B,DD,rMED; multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Recessive; Epiphyseal dysplasia, multiple, 4
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: SLC26A2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:51 a.m.
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achondrogenesis Ib 600972; Atelosteogenesis II 256050; De la Chapelle dysplasia 256050; Diastrophic dysplasia 222600; Diastrophic dysplasia, broad bone-platyspondylic variant 222600; Epiphyseal dysplasia, multiple, 4 226900
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes ACG1B,DD,rMED; multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Recessive; Epiphyseal dysplasia, multiple, 4 for gene: SLC26A2
Source NHS GMS was added to SLC26A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
SLC26A2 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services SLC26A2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory SLC26A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
SLC26A2 was created by sleigh
SLC26A2 was added to Unexplained skeletal dysplasiapanel. Sources: