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Skeletal dysplasia

Gene: SLC26A2

Green List (high evidence)
SLC26A2 (solute carrier family 26 member 2)
EnsemblGeneIds (GRCh38): ENSG00000155850
EnsemblGeneIds (GRCh37): ENSG00000155850
OMIM: 606718, Gene2Phenotype
SLC26A2 is in 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Gene previously called DTDST. Sulphation disorders group of SD. >3 cases; Review on behalf of Tracy Lester
Created: 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

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: SLC26A2; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.
Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:51 a.m.
Created: 27 Jul 2016, 9:51 a.m.

Panel version: 0.704

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • ACG1B,DD,rMED
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Recessive
  • Epiphyseal dysplasia, multiple, 4
OMIM
606718
Clinvar variants
Variants in SLC26A2
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes ACG1B,DD,rMED; multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Recessive; Epiphyseal dysplasia, multiple, 4 for gene: SLC26A2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SLC26A2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC26A2 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SLC26A2 was added to Unexplained skeletal dysplasiapanel. Sources: