MECP2

methyl-CpG binding protein 2
OMIM: 300005, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green MECP2 in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green 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
Red MECP2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders 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 Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 Encephalopathy, neonatal severe, OMIM:300673 Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055 Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260 Rett syndrome, OMIM:312750 Rett syndrome, atypical, OMIM:312750 Rett syndrome, preserved speech variant, OMIM:312750