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  3. SLC26A2
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Clefting

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

3 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Sufficient cases. Clefting in some.
Created: 26 May 2017, 7:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DIASTROPHIC DYSPLASIA; DTD

Created: 26 May 2017, 7:17 a.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed from Green to Amber until get feedback form Clinical team
Created: 20 Mar 2017, 11:27 a.m.
Comment on publications: added publications as evidence for the disorders.
Created: 7 Feb 2017, 10:50 a.m.
Comment on publications: Evidence for unrelated cases for Atelosteogenesis II PMID: 18708426; 8571951; 15316973; 8931695. Diastrophic dysplasia PMID: 7923357; 15316973; 18708426. Multiple epiphyseal dysplasia-4 PMID:10465113; 11565064; 12866518; 25667404.
Created: 7 Feb 2017, 10:48 a.m.
Comment on phenotypes: added disorders from OMIM that have a clefting phenotype
Created: 7 Feb 2017, 10:01 a.m.
Created: 27 Jan 2017, 5:20 p.m.

Panel version: 0.145

Usha Kini (Oxford Centre for Genomic Medicine)

Red List (low evidence)

Created: 8 Dec 2016, 10:53 a.m.

Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Orofacial Clefting with skeletal features
  • Atelosteogenesis II (includes clefting), 256050
  • De la Chapelle dysplasia (includes clefting), 256050
  • McAlister Dysplasia
  • Diastrophic dysplasia (includes clefting), 222600
  • Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600
  • DIASTROPHIC DYSPLASIA
  • DTD
OMIM
606718
Clinvar variants
Variants in SLC26A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

20 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Feb 2017, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC26A2 were set to 18708426; 8571951; 15316973; 8931695; 7923357; 15316973; 18708426; 10465113; 11565064; 12866518; 25667404

7 Feb 2017, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC26A2 were set to 18708426; 8571951; 15316973; 8931695; 7923357; 15316973; 18708426; 10465113; 11565064; 12866518; 25667404

7 Feb 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC26A2 were set to Orofacial Clefting with skeletal features; Atelosteogenesis II (includes clefting), 256050; De la Chapelle dysplasia (includes clefting), 256050; McAlister Dysplasia; Diastrophic dysplasia (includes clefting), 222600; Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600

7 Feb 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC26A2 were set to Orofacial Clefting with skeletal features; Atelosteogenesis II (includes clefting), 256050; De la Chapelle dysplasia (includes clefting), 256050; Diastrophic dysplasia (includes clefting), 222600; Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600

27 Jan 2017, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC26A2 were set to 18708426; 8571951;15316973;8931695

27 Jan 2017, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC26A2 were set to 18708426;8571951;15316973;8931695

27 Jan 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC26A2 were set to Orofacial Clefting with skeletal features;Atelosteogenesis II (includes clefting), 256050; De la Chapelle dysplasia (includes clefting), 256050;

27 Jan 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

SLC26A2 was added to Cleftingpanel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Jan 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

SLC26A2 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen

18 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

SLC26A2 was created by oniblock

18 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SLC26A2 was added to Cleftingpanel. Sources: UKGTN