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DDG2P

Gene: MED13

Amber List (moderate evidence)

MED13 (mediator complex subunit 13)
EnsemblGeneIds (GRCh38): ENSG00000108510
EnsemblGeneIds (GRCh37): ENSG00000108510
OMIM: 603808, Gene2Phenotype
MED13 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: MED13 - Neurodevelopment disorder. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic.
Created: 22 Apr 2019, 7:34 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • MED13 - Neurodevelopment disorder
OMIM
603808
Clinvar variants
Variants in MED13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: MED13 was added gene: MED13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MED13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MED13 were set to 29740699 Phenotypes for gene: MED13 were set to MED13 - Neurodevelopment disorder