Genomics England
GMS Panels
Panels
Genes and Entities

IGSF1

immunoglobulin superfamily member 1
OMIM: 300137
PanelMode of inheritanceDetails
3 panels
Green
in Congenital hypothyroidism
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 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypothyroidism, central, and testicular enlargement, OMIM:300888