Leukodystrophy - adult onset
Gene: GRNEnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White matter abnormalities have been reported in presymptomatic carriers and affected carriers.
Sources: OtherCreated: 1 Apr 2024, 6:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: grn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: grn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GRN was added gene: GRN was added to Leukodystrophy - adult onset. Sources: Other Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRN were set to 36970046; 36632182 Phenotypes for gene: GRN were set to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Review for gene: GRN was set to GREEN gene: GRN was marked as current diagnostic