Clefting disorders
Gene: SLC26A2EnsemblGeneIds (GRCh38): ENSG00000155850
EnsemblGeneIds (GRCh37): ENSG00000155850
OMIM: 606718, Gene2Phenotype
SLC26A2 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert Review Green
- Phenotypes
-
- De la Chapelle dysplasia (includes clefting), 256050
- DIASTROPHIC DYSPLASIA
- Diastrophic dysplasia (includes clefting), 222600
- Atelosteogenesis II (includes clefting), 256050
- DTD
- Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600
- McAlister Dysplasia
- Orofacial Clefting with skeletal features
- OMIM
- 606718
- Clinvar variants
- Variants in SLC26A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Multiple epiphyseal dysplasia and pseudoachondroplasia
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Hydrops fetalis
- Pierre Robin Sequence
- Short Long Bones with Advanced Carpal Bone Age
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Prepair 500+
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC26A2 was added gene: SLC26A2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A2 were set to 12866518; 25667404; 8931695; 8571951; 10465113; 18708426; 15316973; 11565064; 7923357 Phenotypes for gene: SLC26A2 were set to De la Chapelle dysplasia (includes clefting), 256050; DIASTROPHIC DYSPLASIA; Diastrophic dysplasia (includes clefting), 222600; Atelosteogenesis II (includes clefting), 256050; DTD; Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600; McAlister Dysplasia; Orofacial Clefting with skeletal features