| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Imprinting disorders v0.33 | MAGEL2 | Zornitza Stark Marked gene: MAGEL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.33 | MAGEL2 | Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.33 | MAGEL2 | Zornitza Stark Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; Chitayat-Hall Syndrome to Schaaf-Yang syndrome, MIM# 615547; Chitayat-Hall Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.32 | MAGEL2 | Zornitza Stark Classified gene: MAGEL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.32 | MAGEL2 | Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.31 | MAGEL2 | Zornitza Stark reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schaaf-Yang syndrome, MIM# 615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.19 | MAGEL2 |
Anna Le Fevre changed review comment from: MAGEL2 is a single-exon gene. Frameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products. The pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role. Sources: Literature; to: Multiple reports. MAGEL2 is a single-exon gene. Frameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products. The pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role. Sources: Literature |
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| Imprinting disorders v0.3 | MAGEL2 |
Anna Le Fevre gene: MAGEL2 was added gene: MAGEL2 was added to Imprinting disorders. Sources: Literature Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: MAGEL2 were set to 24076603; 31397880; 29599419; 30302899 Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome; Chitayat-Hall Syndrome Review for gene: MAGEL2 was set to GREEN Added comment: MAGEL2 is a single-exon gene. Frameshift mutations may not cause nonsense-mediated decay, but instead a variety of truncated or elongated protein products. The pathogenicity of haploinsufficiency of the paternal allele is uncertain (ClinGen review 2018). A dominant-negative effect has been suggested. Haploinsufficiency may play a role. Sources: Literature |
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