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Primary immunodeficiency

Gene: MED13L

Red List (low evidence)

MED13L (mediator complex subunit 13 like)
EnsemblGeneIds (GRCh38): ENSG00000123066
EnsemblGeneIds (GRCh37): ENSG00000123066
OMIM: 608771, Gene2Phenotype
MED13L is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

One of the 25 top novel PID-associated genes in a large-cohort WGS analysis, using BeviMed assessment of enrichment for candidate disease-causing variants in individual genes (https://doi.org/10.1101/499988).
Created: 26 May 2020, 8:36 a.m. | Last Modified: 26 May 2020, 8:36 a.m.
Panel Version: 2.175

Mode of inheritance
Unknown

Phenotypes
primary immunodeficiency

Publications

  • https://doi.org/10.1101/499988

Details

History Filter Activity

26 May 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: MED13L was added gene: MED13L was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MED13L was set to Unknown Phenotypes for gene: MED13L were set to primary immunodeficiency