Clefting
Gene: SLC26A2
Sufficient cases. Clefting in some.Created: 26 May 2017, 7:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIASTROPHIC DYSPLASIA; DTD
Comment on list classification: changed from Green to Amber until get feedback form Clinical teamCreated: 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 phenotypeCreated: 7 Feb 2017, 10:01 a.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for SLC26A2 were set to 18708426; 8571951; 15316973; 8931695; 7923357; 15316973; 18708426; 10465113; 11565064; 12866518; 25667404
Publications for SLC26A2 were set to 18708426; 8571951; 15316973; 8931695; 7923357; 15316973; 18708426; 10465113; 11565064; 12866518; 25667404
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
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
Publications for SLC26A2 were set to 18708426; 8571951;15316973;8931695
Publications for SLC26A2 were set to 18708426;8571951;15316973;8931695
Phenotypes for SLC26A2 were set to Orofacial Clefting with skeletal features;Atelosteogenesis II (includes clefting), 256050; De la Chapelle dysplasia (includes clefting), 256050;
SLC26A2 was added to Cleftingpanel. Sources: Illumina TruGenome Clinical Sequencing Services
SLC26A2 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
SLC26A2 was created by oniblock
SLC26A2 was added to Cleftingpanel. Sources: UKGTN