Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |