The MED27 gene is located on chromosome 9 at 9q34.13 and encodes a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation (PMID 9989412). MED27 was first reported in relation to autosomal recessive neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia in 2021 (Meng et al., PMID: 33443317). Sixteen variants (11 missense, 1 in-frame indel, 3 frameshift and 1 splicing) that have been reported in 30 probands in two publications (PMIDs: 33443317, 37517035) are included in this curation. Variants in this gene segregated with disease in families with multiple affected family members. The mechanism of pathogenicity is reported to be loss of function (PMID: 16582438).
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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