GRN

granulin precursor
OMIM: 138945, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red GRN in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.36

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 1.70

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 1.48

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)

Amber GRN in Neuronal ceroid lipofuscinosis


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

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

Red GRN in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.104
Latest signed off version: v3.2 (13 Feb 2020)

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 Neurodegenerative disorders - adult onset


Version 2.174
Latest signed off version: v2.31 (8 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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

Red GRN in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert

Amber GRN in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.374
Latest signed off version: v2.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
  • neuronal ceroid lipofuscinosis 1, MONDO:0013866
Tags
  • for-review

Red GRN in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1136
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 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

    Amber GRN in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.187
    Latest signed off version: v2.7 (25 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
    • neuronal ceroid lipofuscinosis 1, MONDO:0013866
    Tags
    • for-review

    Red GRN in Structural eye disease


    Version 1.73
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706
    • Eye Disorders

    Green GRN in Adult onset movement disorder


    Version 1.121
    Latest signed off version: v1.14 (15 Oct 2020)

    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 1.78

    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