1. Genes and Genomic Entities
  2. MED27

MED27

mediator complex subunit 27
OMIM: 605044, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green MED27 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 8.6
Latest signed off version: v8.5 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Axial hypotonia
  • Spasticity
  • Dystonia
  • Cerebellar hypoplasia
  • Cataracts
  • Epilepsy
Green MED27 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, OMIM:619286
Green MED27 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MED27-related neurodevelopmental disorder
    Green MED27 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • Axial hypotonia
    • Spasticity
    • Dystonia
    • Cerebellar hypoplasia
    • Cataracts
    • Epilepsy
    Green MED27 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • Axial hypotonia
    • Spasticity
    • Dystonia
    • Cerebellar hypoplasia
    • Cataracts
    • Epilepsy
    Green MED27 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • Axial hypotonia
    • Spasticity
    • Dystonia
    • Cerebellar hypoplasia
    • Cataracts
    • Epilepsy