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  2. Early onset or syndromic epilepsy
  3. MED27
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Early onset or syndromic epilepsy

Gene: MED27

Green List (high evidence)
MED27 (mediator complex subunit 27)
EnsemblGeneIds (GRCh38): ENSG00000160563
EnsemblGeneIds (GRCh37): ENSG00000160563
OMIM: 605044, Gene2Phenotype
MED27 is in 6 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
MED27 is currently not associated with any phenotype in OMIM (last edited on 08/03/2012), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'MED27-related neurodevelopmental disorder'

- PMID: 33443317 (2021) - 16 individuals from 11 families with a neurodevelopmental syndrome characterised by mild to profound GDD/ID (14/14), axial hypotonia (14/15), distal spasticity and dystonic movements (13/15), cerebellar hypoplasia (12/14), cataracts (10/15), epilepsy (9/15), and microcephaly (4/14). Age of seizure onset ranged from 20 days to 5 years and seizure types were varied. Epilepsy was drug-resistant in 3/9 patients. Exome sequencing revealed biallelic variants in the MED27 gene, including 3 recurrent variants found in 2 or more families with different background.

Overall sufficient (>3) unrelated cases with epilepsy in patients with MED27 variants for inclusion on this panel as diagnostic-grade (Green).
Sources: Literature
Created: 6 Apr 2021, 3:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy

Publications

Created: 6 Apr 2021, 3:29 p.m.

Panel version: 3.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Axial hypotonia
  • Spasticity
  • Dystonia
  • Cerebellar hypoplasia
  • Cataracts
  • Epilepsy
OMIM
605044
Clinvar variants
Variants in MED27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: MED27.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MED27. Source NHS GMS was added to MED27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: med27 has been classified as Amber List (Moderate Evidence).

6 Apr 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: MED27 was added gene: MED27 was added to Genetic epilepsy syndromes. Sources: Literature Q2_21_rating tags were added to gene: MED27. Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy Review for gene: MED27 was set to GREEN