Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: MED13L

Amber List (moderate evidence)

MED13L (mediator complex subunit 13 like)
EnsemblGeneIds (GRCh38): ENSG00000123066
EnsemblGeneIds (GRCh37): ENSG00000123066
OMIM: 608771, Gene2Phenotype
MED13L is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • INTELLECTUAL DISABILITY
OMIM
608771
Clinvar variants
Variants in MED13L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: MED13L was added gene: MED13L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MED13L were set to 23403903 Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY