MECP2

methyl-CpG binding protein 2
OMIM: 300005, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber MECP2 in Autism Version 0.36	review	Not set	Sources Expert Review Amber SFARI
Amber MECP2 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert list Phenotypes Rett syndrome, OMIM:312750 Encephalopathy, neonatal severe, OMIM:300673 Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055 Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260 Tags Q4_23_promote_green
Red MECP2 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE CHROMOSOME XQ28 DUPLICATION SYNDROME RETT SYNDROME (RTT)[
Green MECP2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green 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
Green MECP2 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Encephalopathy, neonatal severe Angelman syndrome Mental retardation, X-linked syndromic, Lubs type Mental retardation, X-linked, syndromic 13 Rett syndrome
Green MECP2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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)[
Green MECP2 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Rett syndrome, 312750 Mental retardation, X-linked syndromic, Lubs type, 300260 Rett syndrome, atypical, 312750 Rett syndrome, preserved speech variant, 312750 Encephalopathy, neonatal severe, 300673 Mental retardation, X-linked, syndromic 13, 300055