IGSF1

immunoglobulin superfamily member 1
OMIM: 300137
PanelMode of inheritanceDetails
3 panels
R-numbers: R145
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
central hypothyroidism, hypoprolactinaemia, GH deficiency, macroorchidism, Hypothyroidism, central, and testicular enlargement, 300888
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888
R-numbers: R159
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypothyroidism, central, and testicular enlargement (300888)