1. Panels
  2. Familial non syndromic congenital heart disease
  3. MED13L
STRs in panel
Prev Next

Familial non syndromic congenital heart disease

Gene: MED13L

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

3 reviews

Bernard Keavney (The University of Manchester)

Red List (low evidence)

Created: 5 Nov 2017, 2:46 a.m.

Panel version: Imported from "Congenital heart disease" panel version Imported from "Transposition of the great vessels" panel version 0

Alice Gardham (Genomics England)

Comment when marking as ready: Mostly associated with intellectual disability +/- cardiac defects. Not many reports of non-syndromic cardiac disease
Created: 28 Nov 2016, 2:29 p.m.
Created: 28 Nov 2016, 2:29 p.m.

Panel version: 0.7

Ellen McDonagh (Genomics England Curator)

Publications

Created: 22 Jul 2016, 9:03 a.m.

Panel version: Imported from "Congenital heart disease" panel version 0.5

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Transposition of the great arteries, dextro-looped 1, 608808
OMIM
608771
Clinvar variants
Variants in MED13L
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MED13L was created by ellenmcdonagh

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MED13L was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen