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| Mendeliome v1.3050 | MED14 |
Rylee Peters gene: MED14 was added gene: MED14 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MED14 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MED14 were set to PMID: 40597352 Phenotypes for gene: MED14 were set to Neurodevelopmental disorder (MONDO:0700092), MED14-related Review for gene: MED14 was set to RED Added comment: PMID: 40597352: 1x male with clinical VLCAD, developmental delay, microcephaly, hypotonia and brain anomalies. Identified a hemizygous, maternally inherited splice variant c.2365+2T>C, classified as VUS. RNA studies show that the variant results in an out-of-frame loss of the C-terminal end of exon 18 due to novel splice donor use in 1.72 percent of reads. Sources: Literature |
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