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| BabyScreen+ newborn screening v0.315 | MECP2 | Zornitza Stark Marked gene: MECP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.315 | MECP2 | Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.315 | MECP2 | Zornitza Stark Phenotypes for gene: MECP2 were changed from Rett syndrome to MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.314 | MECP2 | Zornitza Stark Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.313 | MECP2 | Zornitza Stark Classified gene: MECP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.313 | MECP2 | Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.312 | MECP2 | Zornitza Stark reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.270 | MECP2 | David Amor reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | MECP2 |
Zornitza Stark gene: MECP2 was added gene: MECP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MECP2 were set to Rett syndrome |
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