Bilateral congenital or childhood onset cataracts

Gene: MED27

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:36 a.m. | Last Modified: 8 Mar 2022, 10:36 a.m.

Panel Version: 2.100

Green List (high evidence)

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), epilepsy (9/15), and microcephaly (4/14). Cataracts were present in 10/15 patients, with four reporting mature cataracts, and 2 sibs had posterior cataracts. 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 cataracts in patients in MED27 variants for inclusion on this panel as diagnostic-grade (Green).
Sources: Literature

Created: 6 Apr 2021, 3:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 33443317