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| Angelman Rett like syndromes v2.2 | CHD8 |
Zornitza Stark gene: CHD8 was added gene: CHD8 was added to Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD8 were set to 40496977 Phenotypes for gene: CHD8 were set to Intellectual developmental disorder with autism and macrocephaly #615032 Review for gene: CHD8 was set to RED Added comment: Single individual reported with a heterozygous stop-gain variant [NM_001170629.2: c.5017C>T, p.(Arg1673∗)], in the chromodomain-helicase-DNA-binding protein 8 (CHD8) gene. In vitro functional analyses, including Western blots, quantitative reverse transcription polymerase chain reaction (qRT-PCR), and proteomic analyses, demonstrated a significant reduction of the CHD8 transcript and two CHD8 protein isoforms in the proband's skin fibroblasts relative to control fibroblasts. Additionally, proteomic analysis indicated a significant reduction of the MeCP2 protein, indicating a possible molecular link between CHD8 and MeCP2 and thus clinically between IDDAM and RTT. Sources: Literature |
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| Angelman Rett like syndromes v2.0 | MECP2 | Gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.10 | MECP2 | Zornitza Stark changed review comment from: Well established gene-disease association, XLD.; to: Well established gene-disease association, XLD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.66 | MECP2 | Zornitza Stark Marked gene: MECP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.66 | MECP2 | Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.66 | MECP2 | Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; MONDO:0010726 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.65 | MECP2 | Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.64 | MECP2 | Zornitza Stark reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, MONDO:0010726; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.0 | MECP2 |
Zornitza Stark gene: MECP2 was added gene: MECP2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MECP2 was set to Unknown |
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