MED12L

mediator complex subunit 12 like
OMIM: 611318, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber MED12L in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Motor delay
    • Delayed speech and language development
    • Intellectual disability
    • Behavioral abnormality
    • Abnormality of the abdomen
    • Seizures
    • Abnormality of the corpus callosum