Bilateral congenital or childhood onset cataracts
Gene: MED27The 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
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: LiteratureCreated: 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
Tag Q2_21_rating was removed from gene: MED27.
Source Expert Review Green was added to MED27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: med27 has been classified as Amber List (Moderate Evidence).
gene: MED27 was added gene: MED27 was added to Cataracts. 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