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  3. SLC26A2
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Hydrops fetalis

Gene: SLC26A2

Amber List (moderate evidence)
SLC26A2 (solute carrier family 26 member 2)
EnsemblGeneIds (GRCh38): ENSG00000155850
EnsemblGeneIds (GRCh37): ENSG00000155850
OMIM: 606718, Gene2Phenotype
SLC26A2 is in 15 panels

1 review

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

Created: 30 Dec 2019, 2:35 a.m.

Panel version: 0.33

History Filter Activity

30 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a2 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a2 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 1

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 Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A2 were set to 31880411 Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, MIM# 600972 Review for gene: SLC26A2 was set to AMBER