Genes in panel
STRs in panel
Prev Next

Severe microcephaly

Gene: MECP2

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Well established gene-disease association, microcephaly is a key phenotypic feature both in Rett syndrome and in males affected by severe neonatal encephalopathy.
Sources: Expert list
Created: 31 Aug 2020, 6:22 a.m.

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; Encephalopathy, neonatal severe 300673

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

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
Phenotypes
  • Rett syndrome, MIM# 312750
  • Encephalopathy, neonatal severe 300673
OMIM
300005
Clinvar variants
Variants in MECP2
Penetrance
None
Panels with this gene

History Filter Activity

31 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MECP2 was added gene: MECP2 was added to Severe microcephaly. Sources: Expert list 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, MIM# 312750; Encephalopathy, neonatal severe 300673 Review for gene: MECP2 was set to GREEN gene: MECP2 was marked as current diagnostic