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Mendeliome

Gene: SLC26A7

Green List (high evidence)

SLC26A7 (solute carrier family 26 member 7)
EnsemblGeneIds (GRCh38): ENSG00000147606
EnsemblGeneIds (GRCh37): ENSG00000147606
OMIM: 608479, Gene2Phenotype
SLC26A7 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported.
Sources: Expert list
Created: 27 Mar 2023, 3:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital hypothyroidism, MONDO:0018612, SLC26A7-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital hypothyroidism, MONDO:0018612, SLC26A7-related
OMIM
608479
Clinvar variants
Variants in SLC26A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a7 has been classified as Green List (High Evidence).

27 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a7 has been classified as Green List (High Evidence).

27 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC26A7 was added gene: SLC26A7 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321 Phenotypes for gene: SLC26A7 were set to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related Review for gene: SLC26A7 was set to GREEN