GRN

granulin precursor
OMIM: 138945, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Red GRN 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 GRN in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.120

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 1.83

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


Version 4.56
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
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
    • neuronal ceroid lipofuscinosis 11 MONDO:0013866
    Amber GRN in Neuronal ceroid lipofuscinosis


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
    • neuronal ceroid lipofuscinosis 11 MONDO:0013866
    Tags
    • Q4_22_promote_green
    Red GRN in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    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
    Amber GRN 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 Amber
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
    • neuronal ceroid lipofuscinosis 11 MONDO:0013866
    Tags
    • Q4_23_promote_green
    Red GRN in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.69

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert
    Green GRN 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
    • Expert Review Green
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
    • neuronal ceroid lipofuscinosis 1, MONDO:0013866
    Red GRN in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    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 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
    • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
    • neuronal ceroid lipofuscinosis 1, MONDO:0013866
    Red GRN 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, 11, OMIM:614706
    Green GRN in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    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
    Green GRN in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aphasia, primary progressive, 607485
    • Ceroid lipofuscinosis, neuronal, 11, 614706
    • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485