Multiple epiphyseal dysplasia and pseudoachondroplasia
Gene: SLC26A2
SLC26A2 (solute carrier family 26 member 2)
EnsemblGeneIds (GRCh38): ENSG00000155850
EnsemblGeneIds (GRCh37): ENSG00000155850
OMIM: 606718, Gene2Phenotype
SLC26A2 is in 15 panels
EnsemblGeneIds (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
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Multiple Epiphyseal Dysplasia, Recessive
- multiple epiphyseal dysplasia
- Epiphyseal dysplasia, multiple, 4
- ACG1B,DD,rMED
- OMIM
- 606718
- Clinvar variants
- Variants in SLC26A2
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Multiple epiphyseal dysplasia and pseudoachondroplasia
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Hydrops fetalis
- Skeletal Dysplasia_Fetal
- Pierre Robin Sequence
- Short Long Bones with Advanced Carpal Bone Age
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
History Filter Activity
2 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: SLC26A2 was added gene: SLC26A2 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to Multiple Epiphyseal Dysplasia, Recessive; multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, 4; ACG1B,DD,rMED