GRN

granulin precursor
OMIM: 138945, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Red GRN in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green GRN in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • frontotemporal lobar degeneration with TDP43 inclusions
  • Complex parkinsonism
Green GRN in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Frontotemporal Dementia
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Green GRN in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
    • neuronal ceroid lipofuscinosis 11 MONDO:0013866
    Green GRN in Neuronal ceroid lipofuscinosis


    Level 2: Metabolic
    Version 3.2
    Latest signed off version: v3.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
    • neuronal ceroid lipofuscinosis 11 MONDO:0013866
    Red GRN in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485Myasthenia, limb-girdle, familial, 254300
    Green GRN in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
    • Aphasia, primary progressive, OMIM:607485
    • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
    Green GRN in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
    • neuronal ceroid lipofuscinosis 11 MONDO:0013866
    Red GRN in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.74

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert
    Green GRN in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
    • neuronal ceroid lipofuscinosis 1, MONDO:0013866
    Red GRN in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485
    • Aphasia, primary progressive, 607485
    • Ceroid lipofuscinosis, neuronal, 11, 614706
    Green GRN in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
    • neuronal ceroid lipofuscinosis 11 MONDO:0013866
    Green GRN in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
    • neuronal ceroid lipofuscinosis 1, MONDO:0013866
    Red GRN in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
    Green GRN in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485