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| Mendeliome v2.128 | MED24 | chirag patel Marked gene: MED24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.128 | MED24 | chirag patel Gene: med24 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.128 | MED24 |
chirag patel gene: MED24 was added gene: MED24 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MED24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MED24 were set to 30809043 Phenotypes for gene: MED24 were set to Isolated short stature, MONDO:1010112 Review for gene: MED24 was set to RED Added comment: PMID 30809043 reports 2 unrelated individuals with idiopathic short stature (HT -2.1 and -2.3SD) and 2 different heterozygous MED24 variants. The p.(Thr416Ser) variant was de novo, and the p.(Arg763Gln) variant was inherited from an affected mother (HT -1.1SD). No functional assays were provided. Sources: Literature |
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