PanelApp (test)
  1. Genes and Genomic Entities
  2. KMT2E:Ensemblv90

KMT2E:Ensemblv90

lysine methyltransferase 2E
OMIM: 608444, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green KMT2E in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.153

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KMT2E in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • O'Donnell-Luria-Rodan syndrome, MIM# 618512

Green KMT2E in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • O'Donnell-Luria-Rodan syndrome MIM#618512

Green KMT2E in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome, MIM# 618512
    • Intellectual disability
    • Autism
    • Seizures

    Green KMT2E 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
    • Genetic Health Queensland
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome, MIM# 618512
    • Intellectual disability
    • Autism
    • Seizures

    Amber KMT2E in Fetal anomalies


    Version 1.482

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome MIM#618512

    Green KMT2E in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green KMT2E in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome MIM#618512

    Green KMT2E in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome, MIM# 618512
    • Intellectual disability
    • Autism
    • Seizures

    Green KMT2E 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
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome, MIM# 618512
    • Intellectual disability
    • Autism
    • Seizures