IGSF1

immunoglobulin superfamily member 1
OMIM: 300137, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green IGSF1 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypothyroidism, central, and testicular enlargement, MIM# 300888
Green IGSF1 in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.34	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypothyroidism, central, and testicular enlargement, MIM# 300888
Green IGSF1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Central hypothyroidism and testicular enlargement
Green IGSF1 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypothyroidism, central, and testicular enlargement, MIM# 300888
Red IGSF1 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypothyroidism, central, and testicular enlargement MIM#300888
Green IGSF1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene Phenotypes Hypothyroidism, central, and testicular enlargement, MIM# 300888 Tags treatable endocrine