Congenital hypothyroidism

Gene: IRS4

Green List (high evidence)

IRS4 (insulin receptor substrate 4)
EnsemblGeneIds (GRCh38): ENSG00000133124
EnsemblGeneIds (GRCh37): ENSG00000133124
OMIM: 300904, Gene2Phenotype
IRS4 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. IRS4 is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 30061370 reported on 5 Dutch families (paper didn't mention whether they are are unrelated or not) with different variants in the gene. The different variants are nonsense and frameshift variants. The paper also describe results from a knockout mouse model that did not show any signs of disease, which is contradictory to the knockout mouse model described in PMID: 10644546, which showed mild metabolic differences to WT controls. However, despite the mouse results there is enough evidence to support promoting this gene to grene status.
Created: 19 Jun 2019, 9:14 a.m.

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Congenital central hypothyroidism OMIM 300904

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • East of England GLH
Phenotypes
  • Congenital central hypothyroidism
OMIM
300904
Clinvar variants
Variants in IRS4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: irs4 has been classified as Green List (High Evidence).

19 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IRS4 were set to 30061370

18 Jun 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: IRS4 was added gene: IRS4 was added to Congenital hypothyroidism. Sources: East of England GLH Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IRS4 were set to 30061370 Phenotypes for gene: IRS4 were set to Congenital central hypothyroidism