Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.17 MECP2 Louise Daugherty Mode of inheritance for gene MECP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.12 MECP2 Louise Daugherty reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 MECP2 Louise Daugherty Publications for gene MECP2 were updated from to 30847515
Severe Paediatric Disorders v0.10 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
Severe Paediatric Disorders v0.9 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
Severe Paediatric Disorders v0.9 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
Severe Paediatric Disorders v0.8 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Mental retardation, X-linked, syndromic 13, 300055; Encephalopathy, neonatal severe, 300673 for gene: MECP2
Severe Paediatric Disorders v0.7 MECP2 Louise Daugherty Source Next Generation Children Project was added to MECP2.
Severe Paediatric Disorders v0.5 MECP2 Louise Daugherty Source Expert Review Green was added to MECP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 MECP2 Louise Daugherty gene: MECP2 was added
gene: MECP2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MECP2 was set to