CLN8

CLN8, transmembrane ER and ERGIC protein
OMIM: 607837, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Red CLN8 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Red CLN8 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 CLN8 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, 8 OMIM:600143
  • neuronal ceroid lipofuscinosis 8 MONDO:0010830
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Green CLN8 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, 8 OMIM:600143
  • neuronal ceroid lipofuscinosis 8 MONDO:0010830
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Red CLN8 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green CLN8 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Green CLN8 in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
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, 8
    Red CLN8 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8
    Green CLN8 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143
    Green CLN8 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    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
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Expert Review Green
    • Expert
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 8 600143
    • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
    Green CLN8 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    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
    • UKGTN
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8)
    Green CLN8 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    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, 8, 600143
    Red CLN8 in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 8, 600143
    • Eye Disorders
    Amber CLN8 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 8, 600143
    Green CLN8 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
    • Ceroid lipofuscinosis, neuronal, 8, 600143