Genomics England
GMS Panels
Panels
Genes and Entities

MED12L

mediator complex subunit 12 like
OMIM: 611318
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nizon-Isidor syndrome, OMIM:618872, Nizon-Isidor syndrome, MONDO:0030030