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Limb disorders

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

2 reviews

Eleanor Williams (Genomics England Curator)

Genomics England Clinical team notes - Agree with green rating. Short limb dwarfusm but can be milder in childhood.
Created: 9 Sep 2018, 5:57 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Several of the phenotypes associated with this gene include limb disorders. This is a green gene on the Unexplained skeletal dysplasia gene panel version 1.99.
Created: 9 Apr 2018, 4 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Diastrophic dysplasia, broad bone-platyspondylic variant
  • Diastrophic dysplasia
  • Epiphyseal dysplasia, multiple, 4
  • Atelosteogenesis, type II
OMIM
606718
Clinvar variants
Variants in SLC26A2
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC26A2 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLC26A2 was created by Ellen McDonagh