CLN5

CLN5, intracellular trafficking protein
OMIM: 608102, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red CLN5 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

review Not set
Sources
  • Emory Genetics Laboratory

Red CLN5 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

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

Amber CLN5 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745
    Tags
    • Q2_21_rating

    Green CLN5 in Lysosomal storage disorder


    Version 1.78
    Latest signed off version: v1.2 (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, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745

    Green CLN5 in Neuronal ceroid lipofuscinosis


    Version 1.23
    Latest signed off version: v1.3 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745

    Green CLN5 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    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, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745

    Green CLN5 in Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (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, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745

    Red CLN5 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 5

    Green CLN5 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745

    Red CLN5 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert
    • Expert Review Red

    Green CLN5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (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, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745

    Green CLN5 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745

    Red CLN5 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 5, 256731
    • Eye Disorders

    Green CLN5 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745

    Green CLN5 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
    • neuronal ceroid lipofuscinosis 5 MONDO:0009745