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Severe microcephaly v4.52 MECP2 Achchuthan Shanmugasundram Classified gene: MECP2 as Amber List (moderate evidence)
Severe microcephaly v4.52 MECP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available for the association of MECP2 with severe microcephaly, this gene can be promoted to green rating in the next GMS review.
Severe microcephaly v4.52 MECP2 Achchuthan Shanmugasundram Gene: mecp2 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v4.51 MECP2 Achchuthan Shanmugasundram Phenotypes for gene: MECP2 were changed from Rett syndrome, MIM# 312750; Encephalopathy, neonatal severe 300673 to Rett syndrome, OMIM:312750; Encephalopathy, neonatal severe, OMIM:300673; Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055; Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260
Severe microcephaly v4.50 MECP2 Achchuthan Shanmugasundram Publications for gene: MECP2 were set to
Severe microcephaly v4.49 MECP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MECP2.
Severe microcephaly v4.49 MECP2 Achchuthan Shanmugasundram reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32393352, 34351885; Phenotypes: Rett syndrome, OMIM:312750, Encephalopathy, neonatal severe, OMIM:300673, Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055, Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe microcephaly v2.19 MECP2 Zornitza Stark 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
Added comment: 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