EHMT1

euchromatic histone lysine methyltransferase 1
OMIM: 607001, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green EHMT1 in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 1, MIM# 610253
  • MONDO:0027407
Tags
  • SV/CNV

Green EHMT1 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red EHMT1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Kleefstra syndrome, MIM#610253

Green EHMT1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 1, MIM# 610253
  • MONDO:0027407
Tags
  • SV/CNV

Green EHMT1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 1 (MIM#610253)

Amber EHMT1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Kleefstra syndrome 1 MIM#610253

Green EHMT1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Kleefstra syndrome 1, MIM# 610253
    • MONDO:0027407
    Tags
    • SV/CNV

    Green EHMT1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Kleefstra syndrome 1, MIM# 610253
    • MONDO:0027407

    Green EHMT1 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Kleefstra syndrome 1, MIM# 610253
    • MONDO:0027407