1. Genes and Genomic Entities
  2. CLN6

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 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Red CLN6 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green CLN6 in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

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 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • North London GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6 OMIM:601780
    • neuronal ceroid lipofuscinosis 6 MONDO:0011144
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300
    • neuronal ceroid lipofuscinosis 4A MONDO:0008768
    Green CLN6 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		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 2.6
    Latest signed off version: v2.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6 OMIM:601780
    • neuronal ceroid lipofuscinosis 6 MONDO:0011144
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300
    • neuronal ceroid lipofuscinosis 4A MONDO:0008768
    Green CLN6 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		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, OMIM:601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300
    Green CLN6 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 6 601780
    • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
    Green CLN6 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.90
    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
    • CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780
    • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300
    Amber CLN6 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    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
    • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    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 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 with onset in adulthood


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

    		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 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		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, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green CLN6 in Severe Paediatric Disorders


    Version 1.184

    		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