Congenital hypothyroidismGene: IRS4
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.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital central hypothyroidism OMIM 300904
Gene: irs4 has been classified as Green List (High Evidence).
Publications for gene: IRS4 were set to 30061370
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