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Fetal anomalies

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 15 panels

3 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association causing skeletal abnormalities of varying severity.
Created: 6 Jan 2022, 5:07 a.m. | Last Modified: 6 Jan 2022, 5:07 a.m.
Panel Version: 0.1881

Phenotypes
Achondrogenesis 1B, MIM#600972; Atelosteogenesis, type II, MIM#256050; Diastrophic dysplasia, MIM#222600; Epiphyseal dysplasia, multiple, 4, MIM#226900

Publications

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a direct role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index
Created: 22 Jul 2020, 1 a.m. | Last Modified: 22 Jul 2020, 1:06 a.m.
Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Skeletal dysplasia (various)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Hydrops can be a presenting feature of this skeletal dysplasia, one case report found.
Sources: Expert list
Created: 30 Dec 2019, 2:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achondrogenesis Ib, MIM# 600972

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Achondrogenesis 1B, MIM#600972
  • Atelosteogenesis, type II, MIM#256050
  • Diastrophic dysplasia, MIM#222600
  • Epiphyseal dysplasia, multiple, 4, MIM#226900
OMIM
606718
Clinvar variants
Variants in SLC26A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc26a2 has been classified as Green List (High Evidence).

6 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC26A2 were changed from ACHONDROGENESIS TYPE 1B; DIASTROPHIC DYSPLASIA; ATELOSTEOGENESIS TYPE 2; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 to Achondrogenesis 1B, MIM#600972; Atelosteogenesis, type II, MIM#256050; Diastrophic dysplasia, MIM#222600; Epiphyseal dysplasia, multiple, 4, MIM#226900

6 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SLC26A2 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC26A2 was added gene: SLC26A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B; DIASTROPHIC DYSPLASIA; ATELOSTEOGENESIS TYPE 2; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4