Clefting

Gene: MED16

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 11 Mar 2026, 2:36 p.m. | Last Modified: 11 Mar 2026, 2:36 p.m.

Panel Version: 6.22

Comment on list classification: There is sufficient evidence (seven unrelated families) available for the promotion of this gene to green rating in the next GMS update.

Created: 7 Aug 2025, 11:17 p.m. | Last Modified: 7 Aug 2025, 11:17 p.m.

Panel Version: 6.9

PMID:40081376 (2025) reported 25 patients from 18 families with biallelic MED16 variants and multiple congenital anomalies (MCAs)-intellectual disability syndrome.

Intellectual disability, speech delay, and/or motor delay of variable severity were constant and associated with variable combinations of craniofacial defects (micro/retrognathia, cleft palate, and preauricular tags), anomalies of the extremities, and heart defects (predominantly tetralogy of Fallot). Visual impairment, deafness, and magnetic resonance imaging (MRI) abnormalities were also frequent.

There were a total of 8 predicted protein-truncating and 18 missense or in-frame duplication variants identified from these patients.

Clefting was reported in eight patients from seven different families.

This gene has been associated with relevant phenotypes in OMIM (MIM #621220), but not yet in Gene2Phenotype.
Sources: Literature

Created: 7 Aug 2025, 11:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Guillouet-Gordon syndrome, OMIM:621220

Publications

• 40081376