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| Intellectual disability syndromic and non-syndromic v2.8 | MAGED1 | Sarah Milton Classified gene: MAGED1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.8 | MAGED1 | Sarah Milton Gene: maged1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.7 | MAGED1 |
Sarah Milton gene: MAGED1 was added gene: MAGED1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: MAGED1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MAGED1 were set to 42162770 Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related Review for gene: MAGED1 was set to AMBER Added comment: MAGED1 encodes Melanoma-Associated Antigen D1. It is expressed in the developing brain and is involved in controlling cell cycle progression and neuronal apoptosis. PMID 42162770 reports two unrelated male probands with de novo variants in MAGED1 presenting with epileptic spasms and severe intellectual disability. One frameshift and one missense variant we observed. It should be noted the missense variant was present in gnomAD v4 with 3 heterozygotes. Functional studies were performed demonstrating altered protein interactions and changes to cell cycle progression. Proposed mechanism of disease (GOF vs LOF) remains unclear. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v1.834 | Sarah Milton Copied gene MAGED1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.834 | MAGED1 |
Sarah Milton gene: MAGED1 was added gene: MAGED1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature Mode of inheritance for gene: MAGED1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MAGED1 were set to 42162770 Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related |
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