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  1. Genes and Genomic Entities
  2. CLN3

CLN3

CLN3, battenin
OMIM: 607042, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green CLN3 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.43

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3 MIM#204200

    Green CLN3 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
    • MONDO:0008767

    Green CLN3 in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.23

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
    • MONDO:0008767

    Green CLN3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
    • MONDO:0008767

    Green CLN3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

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

    Green CLN3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3 MIM#204200

    Green CLN3 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.182

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa
    • Juvenile neuronal ceroid lipofuscinosis

    Green CLN3 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3 204200

    Green CLN3 in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.22

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3 204200

    Green CLN3 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Juvenile neuronal ceroid lipofuscinosis
    • Retinitis pigmentosa

    Green CLN3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3, 204200 (3)

    Green CLN3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3

    Amber CLN3 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
    • MONDO:0008767
    Tags
    • SV/CNV

    Amber CLN3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category A gene
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
    Tags
    • clinical trial

    Amber CLN3 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
    • MONDO:0008767