Genomics England
GMS Panels
Panels
Genes and Entities

MED13L

mediator complex subunit 13 like
OMIM: 608771
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789