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Intellectual disability

Gene: MED16

Green List (high evidence)
MED16 (mediator complex subunit 16)
EnsemblGeneIds (GRCh38): ENSG00000175221
EnsemblGeneIds (GRCh37): ENSG00000175221
OMIM: 604062, Gene2Phenotype
MED16 is in 2 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
Created: 12 Mar 2026, 1:33 p.m.
Last Modified: 12 Mar 2026, 1:33 p.m.
Panel version: 9.299

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence (10 unrelated families) available for the promotion of this gene to green rating in the next GMS update.
Created: 7 Aug 2025, 11 p.m. | Last Modified: 7 Aug 2025, 11 p.m.
Panel Version: 9.57
As reviewed by Karen Stals, PMID:40081376 (2025) reported 25 patients from 18 families with biallelic MED16 variants and multiple congenital anomalies (MCAs)-intellectual disability syndrome. There were a total of 8 predicted protein-truncating and 18 missense or in-frame duplication variants identified from these patients. Moderate/ severe intellectual disability was reported in 10 of these patents from 8 unrelated families, while global developmental delay was in two unrelated patients.

This gene has been associated with relevant phenotypes in OMIM (MIM #621220), but not yet in Gene2Phenotype.
Created: 7 Aug 2025, 10:55 p.m. | Last Modified: 7 Aug 2025, 10:55 p.m.
Panel Version: 9.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Guillouet-Gordon syndrome, OMIM:621220

Publications

Created: 7 Aug 2025, 10:55 p.m.
Last Modified: 7 Aug 2025, 10:55 p.m.
Panel version: 9.55

Karen Stals (Royal Devon and Exeter Hospital)

Green List (high evidence)

25 individuals from 18 families reported with biallelic MED16 variants with 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. 8 predicted protein-truncating and 18 missense or in-frame duplication variants identified.
Sources: NHS GMS
Created: 30 Jul 2025, 12:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay; multiple congenital abnormalities; Medopathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Jul 2025, 12:12 p.m.

Panel version: 9.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Guillouet-Gordon syndrome, OMIM:621220
OMIM
604062
Clinvar variants
Variants in MED16
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: MED16. Tag Q3_25_NHS_review was removed from gene: MED16.

12 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MED16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Aug 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: med16 has been classified as Amber List (Moderate Evidence).

7 Aug 2025, Gel status: 0

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: MED16. Tag Q3_25_NHS_review tag was added to gene: MED16.

7 Aug 2025, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MED16 were changed from developmental delay; multiple congenital abnormalities; Medopathy to Guillouet-Gordon syndrome, OMIM:621220

7 Aug 2025, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: MED16 were set to PMID: 40081376

30 Jul 2025, Gel status: 0

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

Karen Stals (Royal Devon and Exeter Hospital)

gene: MED16 was added gene: MED16 was added to Intellectual disability. Sources: NHS GMS Mode of inheritance for gene: MED16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED16 were set to PMID: 40081376 Phenotypes for gene: MED16 were set to developmental delay; multiple congenital abnormalities; Medopathy Penetrance for gene: MED16 were set to unknown Review for gene: MED16 was set to GREEN gene: MED16 was marked as current diagnostic