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Newborns main panel

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 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: Relatively newly described gene-disease association. Phenotype not yet on OMIM. PMID: 30333321, PMID: 31372509, PMID: 29546359, PMID: 32486989.
Created: 26 Sep 2024, 4:12 p.m. | Last Modified: 26 Sep 2024, 4:12 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 4:12 p.m.
Last Modified: 26 Sep 2024, 4:12 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 30333321, PMID: 31372509, PMID: 29546359, PMID: 32486989
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonigenesis (no phenotype on OMIM)
Tags
special_consideration
OMIM
608479
Clinvar variants
Variants in SLC26A7
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SLC26A7.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Thyroid dyshormonigenesis (no phenotype on OMIM) for gene: SLC26A7

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC26A7. Added phenotypes Thyroid dyshormonigenesis (no phenotype on OMIM) for gene: SLC26A7 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SLC26A7 were changed from Thyroid dyshormonigenesis (no phenotype on OMIM to Thyroid dyshormonigenesis (no phenotype on OMIM)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC26A7. Added phenotypes Thyroid dyshormonigenesis (no phenotype on OMIM for gene: SLC26A7 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SLC26A7. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Thyroid dyshormonigenesis (no phenotype on OMIM for gene: SLC26A7

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC26A7 was added gene: SLC26A7 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal