MED13 was first reported in relation to an autosomal dominant complex neurodevelopmental disorder in 2014 (PMID: 25363768). Patients are characterised by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioural abnormalities (including autism spectrum disorder or attention deficit-hyperactivity disorder), nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth (PMID: 29740699). Twelve unique variants (nonsense, frameshift, missense and in-frame indel) have been reported in thirteen probands in six publications included in this curation. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts) has been reached. Evidence supporting this gene-disease relationship includes case-level data. The mechanism for the disease is heterozygous loss-of-function. In summary, there is definitive evidence to support the relationship between MED13 and autosomal dominant complex neurodevelopmental disorder. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time.
This classification was approved by the ClinGen ID/Autism Expert Panel 5/7/2022 (SOP version 9).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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