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  3. MED16
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Fetal anomalies

Gene: MED16

Amber List (moderate evidence)
MED16 (mediator complex subunit 16)
EnsemblGeneIds (GRCh38): ENSG00000175221
EnsemblGeneIds (GRCh37): ENSG00000175221
OMIM: 604062, Gene2Phenotype
MED16 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Beth Young (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

IUGR, ACC, congenital heart defects in some individuals(including ToF). Craniofacial and limb defects reported in affected individuals, some of which may be detectable prenatally. Immunofluorsescence studies show pathogenic variants cause protein mislocalisation. Zebrafish models and knock out mice studies show importance of gene in development.Green on clefting panel.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Guillouet-Gordon syndrome, MONDO:0979227; Guillouet-Gordon syndrome, OMIM:621220

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Guillouet-Gordon syndrome, MONDO:0979227
  • Guillouet-Gordon syndrome, OMIM:621220
OMIM
604062
Clinvar variants
Variants in MED16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: MED16 was added gene: MED16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MED16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED16 were set to 40081376 Phenotypes for gene: MED16 were set to Guillouet-Gordon syndrome, MONDO:0979227; Guillouet-Gordon syndrome, OMIM:621220