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Genetic epilepsy syndromes

Gene: MECP2

Green List (high evidence)

MECP2 (methyl-CpG binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000169057
EnsemblGeneIds (GRCh37): ENSG00000169057
OMIM: 300005, Gene2Phenotype
MECP2 is in 7 panels

8 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Rebecca Foulger (Genomics England curator)

I don't know

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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

  • Wan et al (1999) Am J Hum Genet 5: 1520_1529
  • Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
  • Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088
  • Couvert et al (2001) Hum Mol Genet 10(9): 941-946

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

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

  • Wan et al (1999) Am J Hum Genet 5: 1520_1529
  • Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
  • Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088
  • Couvert et al (2001) Hum Mol Genet 10(9): 941-946

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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

  • Wan et al (1999) Am J Hum Genet 5: 1520_1529
  • Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
  • Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088
  • Couvert et al (2001) Hum Mol Genet 10(9): 941-946

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

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

  • Wan et al (1999) Am J Hum Genet 5: 1520 1529
  • Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
  • Ramocki et al (2009) Am J Med Genet Part A 152A: 1079 1088
  • Couvert et al (2001) Hum Mol Genet 10(9): 941-946

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
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
  • 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
OMIM
300005
Clinvar variants
Variants in MECP2
Penetrance
None
Publications
  • Wan et al (1999) Am J Hum Genet 5: 1520_1529
  • Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
  • Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088
  • Couvert et al (2001) Hum Mol Genet 10(9): 941-946
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MECP2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MECP2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MECP2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

MECP2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN,Radboud University Medical Center, Nijmegen

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

MECP2 was created by Sarah Leigh