MED12

mediator complex subunit 12
OMIM: 300188
PanelMode of inheritanceDetails
4 panels
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
OPITZ-KAVEGGIA SYNDROME 305450, LUJAN-FRYNS SYNDROME 309520
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
LUJAN-FRYNS SYNDROME, OPITZ-KAVEGGIA SYNDROME
R-numbers: R59
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
Lujan-Fryns syndrome, 309520, Opitz-Kaveggia syndrome, 305450
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Opitz-Kaveggia syndrome, 305450, Lujan-Fryns syndrome, 309520, Ohdo syndrome, X-linked, 300895, OPITZ-KAVEGGIA SYNDROME (OKS)