GLIS3

GLIS family zinc finger 3
OMIM: 610192
PanelMode of inheritanceDetails
5 panels
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital hypothyroidism, Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, variable cholestasis, hepatic fibrosis, congenital glaucoma, polycystic kidneys, dysmorphic facies, sensorineural deafness
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199, Neonatal Diabetes mellitus with congenital hypothyroidism
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199