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  2. Angelman Rett like syndromes
  3. MECP2
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Angelman Rett like 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 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, XLD.
Created: 6 Jun 2021, 4:53 a.m. | Last Modified: 23 Apr 2024, 3:41 a.m.
Panel Version: 1.10

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, MIM# 312750; MONDO:0010726

Created: 6 Jun 2021, 4:53 a.m.
Last Modified: 23 Apr 2024, 3:41 a.m.
Panel version: 0.64

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Rett syndrome, MIM# 312750
  • MONDO:0010726
OMIM
300005
Clinvar variants
Variants in MECP2
Penetrance
None
Panels with this gene

History Filter Activity

6 Jun 2021, 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).

6 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; MONDO:0010726

6 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MECP2 was added gene: MECP2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MECP2 was set to Unknown