PanelApp (staging)
  1. Genes and Genomic Entities
  2. DMXL2

DMXL2

Dmx like 2
OMIM: 612186, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green DMXL2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 81, MIM# 618663

Green DMXL2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 81, MIM# 618663

    Green DMXL2 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.210

    		3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal dominant 71, MIM#617605
    • Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness

    Green DMXL2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 81, MIM# 618663

    Red DMXL2 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.136

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Polyendocrine-polyneuropathy syndrome , MIM# 616113

    Green DMXL2 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.67

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 81, MIM#618663, with deafness
    • Autosomal dominant hearing loss

    Green DMXL2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 81, MIM#618663

    Red DMXL2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 81, MIM#618663