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BabyScreen+ newborn screening

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.

Most identified through standard NBS.

Treatment: thyroxine.
Sources: Expert list
Created: 20 Mar 2023, 8:12 a.m. | Last Modified: 20 Mar 2023, 8:14 a.m.
Panel Version: 0.2012

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

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

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035
Tags
treatable endocrine
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

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: 1

Created, Added New Source, Added Tag, 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 Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: IRS4. 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 Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035 Review for gene: IRS4 was set to GREEN