CLN6

CLN6, transmembrane ER protein
OMIM: 606725, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red CLN6 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Red CLN6 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.8

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green CLN6 in Ataxia and cerebellar anomalies - narrow panel


Version 2.6
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6, 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

    Green CLN6 in Lysosomal storage disorder


    Version 1.3
    Signed off v.1.2 on 18 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • North London GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300

    Green CLN6 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6, 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

    Green CLN6 in Neuronal ceroid lipofuscinosis


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green

    Green CLN6 in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6, 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

    Green CLN6 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.418

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300

    Green CLN6 in Inborn errors of metabolism


    Version 2.15
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6, 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

    Red CLN6 in Fetal anomalies


    Version 1.74
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET
    • CEROID LIPOFUSCINOSIS, NEURONAL, 6

    Green CLN6 in DDG2P


    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300
    • CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780

    Amber CLN6 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.143
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6, 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

    Green CLN6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.249
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
    • CEROID LIPOFUSCINOSIS, NEURONAL, 6

    Green CLN6 in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Ceroid neuronal lipofuscinosis kufs type, 204300
    • Ceroid lipofuscinosis, neuronal, 6, 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
    • Ceroid neuronal lipofuscinosis 6, 601780

    Green CLN6 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.16
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Eye Disorders
    • Ceroid lipofuscinosis, neuronal, 6 601780

    Red CLN6 in Structural eye disease


    Version 1.9
    Signed off v.1.3 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6, 601780
    • Eye Disorders

    Red CLN6 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.8
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green CLN6 in Severe Paediatric Disorders


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
    • Ceroid lipofuscinosis, neuronal, 6, 601780