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

ERMARD:Ensemblv90

ER membrane associated RNA degradation
OMIM: 615532, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red ERMARD in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.2

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Australian Genomics Health Alliance Brain Malformation Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Periventricular nodular heterotopia 6, MIM#615544

    Red ERMARD in Mendeliome


    Version 1.3802

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Periventricular nodular heterotopia 6, MIM#615544

    Red ERMARD in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.578

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformation Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Periventricular nodular heterotopia 6, MIM#615544

    Red ERMARD 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 Red
    • Genetic Health Queensland
    Phenotypes
    • Periventricular nodular heterotopia 6, MIM#615544

    Red ERMARD in Fetal anomalies


    Version 1.482

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Periventricular nodular heterotopia 6 (MIM#615544)

    Red ERMARD in Periventricular Grey Matter Heterotopia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformation Flagship
    • Expert Review Red
    Phenotypes
    • Periventricular nodular heterotopia 6, MIM#615544