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Early-onset Dementia

Gene: GRN

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

1 review

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

Created: 14 Aug 2023, 3:21 a.m.
Last Modified: 14 Aug 2023, 3:21 a.m.
Panel version: 0.160

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923
OMIM
138945
Clinvar variants
Variants in GRN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grn has been classified as Green List (High Evidence).

14 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GRN were changed from to frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923

14 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRN were set to

14 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GRN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRN was added gene: GRN was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: GRN was set to Unknown