Clefting

Gene: MED16

Green List (high evidence)

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