MED12L:Ensemblv90

mediator complex subunit 12 like
OMIM: 611318, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MED12L in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MED12L-related
  • Intellectual disability
  • Seizures
  • Autism

Green MED12L in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MED12L-related
  • Intellectual disability
  • Seizures
  • Autism

Green MED12L in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MED12L-related
  • Intellectual disability
  • Seizures
  • Autism