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Prepair 1000+

Gene: MECP2

Green List (high evidence)

MECP2 (methyl-CpG binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000169057
EnsemblGeneIds (GRCh37): ENSG00000169057
OMIM: 300005, Gene2Phenotype
MECP2 is in 15 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Severe. Including intellectual disability, onset from near birth.
Pathogenic variants in MECP2 gene cause Rett syndrome (RTT), a severe neurodevelopmental disorder that almost always occurs in females. Males with non-RTT variants in the MECP2 gene can demonstrate a wide variety of phenotypes, including X-linked syndromic intellectual developmental disorder-13, and Lubs-type X-linked syndromic intellectual developmental disorder. Males with RTT-associated MECP2 mutations have neonatal severe encephalopathy that is usually lethal.
Female obligate carriers of variants expected to cause RTT may have skewed X-inactivation, and experience minimal signs of the condition, but can produce offspring affected. Some obligate carriers with skewed x-inactivation may have mild features such as motor coordination problems, mild learning disability.

- Lubs-type X-linked syndromic intellectual developmental disorder (MRXSL) is caused by duplication or triplication of the MECP2 gene.

- Intellectual developmental disorder, X-linked syndromic 13: affected males have been found to have SNV in the MECP2 gene causing AA substitution e.g. E137G - PMID: 10986043. A140V - PMID: 11007980. Small 240bp deletion also reported: PMID 11807877

A large amount of information on variant spectrum and disease can be found in MIM entry: https://omim.org/entry/300005
Created: 7 Feb 2025, 3:40 a.m. | Last Modified: 7 Feb 2025, 3:40 a.m.
Panel Version: 1.1460

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 MIM#300673; Intellectual developmental disorder, X-linked syndromic 13 MIM#300055; Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260

Publications

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 Green
  • Mackenzie's Mission
Phenotypes
  • Encephalopathy, neonatal severe MIM#300673
  • Intellectual developmental disorder, X-linked syndromic 13 MIM#300055
  • Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260
OMIM
300005
Clinvar variants
Variants in MECP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mecp2 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MECP2 were changed from Encephalopathy, neonatal severe, 300673 (3) to Encephalopathy, neonatal severe MIM#300673; Intellectual developmental disorder, X-linked syndromic 13 MIM#300055; Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260

7 Feb 2025, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MECP2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Encephalopathy, neonatal severe, 300673 (3) for gene: MECP2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MECP2 was added gene: MECP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)