MECP2

methyl-CpG binding protein 2
OMIM: 300005
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
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
MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260, MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055, CHROMOSOME XQ28 DUPLICATION SYNDROME 300815, ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673, RETT SYNDROME (RTT)[ 312750
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
Encephalopathy, neonatal severe, Angelman syndrome, Mental retardation, X-linked syndromic, Lubs type, Mental retardation, X-linked, syndromic 13, Rett syndrome
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Rett syndrome, 312750Mental retardation, X-linked, syndromic 13, 300055Rett syndrome, preserved speech variant, 312750Encephalopathy, neonatal severe, 300673{Autism susceptibility, X-linked 3}, 300496Angelman syndrome, 105830Mental retardation, X-linked syndromic, Lubs type, 300260, RETT SYNDROME (RTT)[