IRS4

insulin receptor substrate 4
OMIM: 300904, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green IRS4 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035

Green IRS4 in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.43

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035

Red IRS4 in Fetal anomalies


Version 1.255

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 9- MIM#301035

Green IRS4 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review 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