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  3. MECP2
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Fetal anomalies

Gene: MECP2

Red List (low evidence)
MECP2 (methyl-CpG binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000169057
EnsemblGeneIds (GRCh37): ENSG00000169057
OMIM: 300005, Gene2Phenotype
MECP2 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 2:58 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MECP2 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for RETT SYNDROME (RTT)[, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, Confirmed for CHROMOSOME XQ28 DUPLICATION SYNDROME, and Confirmed for ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOI listed as Hemizgyous for MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, CHROMOSOME XQ28 DUPLICATION SYNDROME, and ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS. In the original PAGE file, MOP listed as Increased gene dosage for CHROMOSOME XQ28 DUPLICATION SYNDROME and LOF for RETT SYNDROME (RTT), MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, and ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.169

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
  • 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)[
OMIM
300005
Clinvar variants
Variants in MECP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Apr 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MECP2 were set to

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to MECP2. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS for gene: MECP2

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CHROMOSOME XQ28 DUPLICATION SYNDROME for gene: MECP2

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 for gene: MECP2

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE for gene: MECP2

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MECP2 was added gene: MECP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: MECP2 were set to RETT SYNDROME (RTT)[