| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.190 | MED20 | Sarah Milton Classified gene: MED20 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.190 | MED20 | Sarah Milton Gene: med20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.189 | MED20 |
Sarah Milton gene: MED20 was added gene: MED20 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MED20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED20 were set to 25446406; 10.21203/rs.3.rs-9516499/v1 Phenotypes for gene: MED20 were set to Neurodevelopmental disorder, MONDO:0700092, MED20-related Review for gene: MED20 was set to AMBER Added comment: MED20 is part of a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators. Many other MED proteins have been associated with disease. PMID 25446406 reports 2 individuals from 1 family with a homozygous missense variant presenting with a neurodevelopmental disorder characterised by spasticity, dystonia, basal ganglia degeneration and cerebral‑cerebellar atrophy. A pre print was published online April 2026 reporting 8 affected individuals from 4 families (including the published family above) with a neurodevelopmental disorder presenting with intellectual disability, brain atrophy, dystonia, cataract and seizures. Functional studies support the loss of function nature of the variants observed in affected individuals. https://www.researchgate.net/publication/405839650_MED20_biallelic_pathogenic_variants_cause_a_neurodevelopmental_disorder_altering_both_transcription_activity_and_Transcription-Coupled_Repair_pathway The association remains limited given this publication is not yet peer reviewed. Sources: Literature |
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