Early onset or syndromic epilepsy
Gene: MECP2
PMID: 32469049 (2020) - Mouse model with the common p.R294X variant in Mecp2 recapitulated many features of the human disorder, including motor dysfunction, deficits in learning and memory, and atypical electroencephalography activity.
Phenotypic abnormalities including early death were rescued by supplying the MECP2 transgene. In vitro and in vivo treatment with the nonsense suppression agent G418 resulted in full-length MeCP2 protein expression, demonstrating feasibility of this therapeutic approach.Created: 23 Sep 2020, 11:41 a.m. | Last Modified: 23 Sep 2020, 11:41 a.m.
Panel Version: 2.154
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Rett syndrome, 312750
Publications
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
RettBASE: http://www.mecp2.chw.edu.au/ XLR neonatal severe encephalopathy, XLR mental retardation and XLD Rett syndrome. Well charecterised phenotype where seizures are a common feature.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
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,300673; Mental retardation, X-linked syndromic, Lubs type,300260; Mental retardation, X-linked, syndromic 13,300055; Rett syndrome,312750; Rett syndrome, atypical,312750; Rett syndrome, preserved speech variant,312750; {Autism susceptibility, X-linked 3},300496
Publications
Mode of inheritance
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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Overlap between X-linked dominant and X-linked recessive with different relevant phenotypes that it is important to consider monoallelic mutations.Created: 29 Jan 2016, 5:01 p.m.
Source Wessex and West Midlands GLH was added to MECP2.
Source NHS GMS was added to MECP2.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to MECP2. Panel: Genetic Epilepsy Syndromes
MECP2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN,Radboud University Medical Center, Nijmegen
MECP2 was created by Sarah Leigh