1. Genes and Genomic Entities
  2. LNPK

LNPK

lunapark, ER junction formation factor
OMIM: 610236, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green LNPK in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Recessive Neurodevelopmental Syndrome
    Amber LNPK in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090
    Amber LNPK in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Generalized hypotonia
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Hypoplasia of the corpus callosum
    • Abnormality of the cerebellum
    • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090
    Tags
    • watchlist
    Amber LNPK in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum
    Green LNPK in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090