Genomics England
GMS Panels
Panels
Genes and Entities

MED13

mediator complex subunit 13
OMIM: 603808
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MED13 - Neurodevelopment disorder
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Delayed speech and language development, Motor delay, Intellectual disability, Autistic behavior, Attention deficit hyperactivity disorder, Abnormality of the eye, Constipation