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  2. Congenital hypothyroidism
  3. IRS4
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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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH).

Five unrelated families reported.
Created: 20 Mar 2023, 8:08 a.m. | Last Modified: 20 Mar 2023, 8:08 a.m.
Panel Version: 0.37

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

Phenotypes
Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035

Publications

Created: 20 Mar 2023, 8:08 a.m.
Last Modified: 20 Mar 2023, 8:08 a.m.
Panel version: 0.37

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035
OMIM
300904
Clinvar variants
Variants in IRS4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRS4 were changed from Congenital central hypothyroidism to Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035

3 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IRS4 was added gene: IRS4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp 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; 10644546 Phenotypes for gene: IRS4 were set to Congenital central hypothyroidism