LNPK

lunapark, ER junction formation factor
OMIM: 610236, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LNPK in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090

Green LNPK in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090

    Green LNPK in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090

    Green LNPK in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090

    Green LNPK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090

    Green LNPK in Fetal anomalies


    Version 1.313

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090