BabyScreen+ newborn screening
Gene: MECP2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low 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
MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055

Created: 5 Oct 2022, 11:42 p.m.
Last Modified: 5 Oct 2022, 11:42 p.m.
Panel version: 0.312

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong

Severity: severe

Age of onset: congenital

Treatment: symptomatic only, therefore exclude
Created: 29 Sep 2022, 9:51 p.m. | Last Modified: 29 Sep 2022, 9:51 p.m.

Panel Version: 0.270

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

Created: 29 Sep 2022, 9:51 p.m.
Last Modified: 29 Sep 2022, 9:51 p.m.
Panel version: 0.270

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
BabySeq Category A gene

Phenotypes

MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055

OMIM

300005

Clinvar variants

Variants in MECP2

Penetrance

None

Panels with this gene