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DDG2P

Gene: MED12

Green List (high evidence)
MED12 (mediator complex subunit 12)
EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 12 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related Opitz-Kaveggia syndrome are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 17334363, 18973276, 20507344, 24039113, 26273451, 27081531, 27286923, 27312080). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00747. The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related Lujan-Fryns syndrome are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 17369503, 24123922, 24715367, 27286923, 27312080, 27500536, 27980443, 28544239, 30006928, 31536828, 6711603). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00913. The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related developmental disorder are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 33244165, 33244166, 35385210). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03071.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease OPITZ-KAVEGGIA SYNDROME, OMIM:305450 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:17334363). The DDG2P confidence category for the disease LUJAN-FRYNS SYNDROME, OMIM:309520 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMIDs: 27980443;27286923;6711603;24715367;31536828;28544239;17369503;27500536;27312080;30006928;24123922). The DDG2P confidence category for the disease MED12-related developmental disorder is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMIDs: 35385210;33244165;33244166).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
OMIM:305450.0; LUJAN-FRYNS SYNDROME, OMIM:309520; OMIM:309520.0; OPITZ-KAVEGGIA SYNDROME, OMIM:305450; MED12-related Lujan-Fryns syndrome; MONDO:0700092; MED12-related developmental disorder; MED12-related Opitz-Kaveggia syndrome

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: uncertain
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OPITZ-KAVEGGIA SYNDROME 305450
  • LUJAN-FRYNS SYNDROME 309520
OMIM
300188
Clinvar variants
Variants in MED12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MED12 was changed from Other - please provide details in the comments to None

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MED12 were updated from 6711603 to 33244166; 17369503; 31536828; 6711603; 24123922; 17334363; 24715367; 28544239; 27980443; 27312080; 33244165; 30006928; 27286923; 27500536; 35385210

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes LUJAN-FRYNS SYNDROME 309520 for gene: MED12 Publications for gene MED12 were changed from 17334363 to 6711603

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MED12 was added gene: MED12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MED12 were set to 17334363 Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME 305450 Mode of pathogenicity for gene: MED12 was set to Other - please provide details in the comments