Incidentalome
Gene: GRN

GRN (granulin precursor)
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 11 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association for FTD.
ClinGen classification - Definitive (25/05/2023)
Heterozygous loss of function variants in GRN are reported in individuals with FTD.

p.Arg493Ter most frequently reported pathogenic variant in GRN causative of FTD.
Created: 14 Aug 2023, 3:21 a.m. | Last Modified: 14 Aug 2023, 3:21 a.m.

Panel Version: 0.160

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923

Publications

20301545, 17436289

Created: 14 Aug 2023, 3:21 a.m.
Last Modified: 14 Aug 2023, 3:21 a.m.
Panel version: Imported from Early-onset Dementia panel version 0.160

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established FTD gene. ALS has been reported in association with some GRN variants, but appears to be a rare occurrence.
Sources: ClinGen
Created: 22 Jun 2023, 1:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jun 2023, 1:12 a.m.

Panel version: Imported from Motor Neurone Disease panel version 0.183

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
ClinGen
Victorian Clinical Genetics Services

Phenotypes

frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923

Tags

adult onset neurodegenerative

OMIM

138945

Clinvar variants

Variants in GRN

Penetrance

None

Publications

Panels with this gene