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Newborns main panel

Gene: IYD

Green List (high evidence)
IYD (iodotyrosine deiodinase)
EnsemblGeneIds (GRCh38): ENSG00000009765
EnsemblGeneIds (GRCh37): ENSG00000009765
OMIM: 612025, Gene2Phenotype
IYD is in 1 panel

1 review

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: 18434651 (3 families), PMID: 18765512 (1 family), PMID: 36633921 (2 families with same variant),
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
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 dyshormonogenesis 4
OMIM
612025
Clinvar variants
Variants in IYD
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Thyroid dyshormonogenesis 4 for gene: IYD

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 IYD. Added phenotypes Thyroid dyshormonogenesis 4 for gene: IYD Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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 IYD. Added phenotypes Thyroid dyshormonogenesis 4 for gene: IYD Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Thyroid dyshormonogenesis 4 for gene: IYD

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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