EHMT2

euchromatic histone lysine methyltransferase 2
OMIM: 604599, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EHMT2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.33

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Kleefstra syndrome, MONDO:0012455, EHMT2-related

Green EHMT2 in Mendeliome


Version 2.516

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kleefstra syndrome, MONDO:0012455, EHMT2-related

Green EHMT2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.125

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Kleefstra syndrome, MONDO:0012455, EHMT2-related