Retinal disorders
Gene: GRN

GRN (granulin precursor)
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 15 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Only found evidence of infraclinical lesions of retinal lipofuscinosis detected in heterozygous carriers (PMID: 28404863) and therefore the MOI of 'biallelic' on this panel is correct.
Created: 2 Nov 2022, 2:53 p.m. | Last Modified: 2 Nov 2022, 2:53 p.m.

Panel Version: 2.295

Created: 2 Nov 2022, 2:53 p.m.
Last Modified: 2 Nov 2022, 2:53 p.m.
Panel version: 2.295

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been promoted to Amber and should be made Green at the next review.
Created: 7 Jan 2021, 10:15 a.m. | Last Modified: 7 Jan 2021, 10:15 a.m.

Panel Version: 2.71

Created: 7 Jan 2021, 10:15 a.m.
Last Modified: 7 Jan 2021, 10:15 a.m.
Panel version: 2.243

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple individuals reported with bi-allelic variants and CLN phenotype. Please also note literature regarding retinal abnormalities in those with mono-allelic variants.
Created: 11 Oct 2020, 3:33 a.m. | Last Modified: 11 Oct 2020, 3:33 a.m.

Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 11, OMIM #614706

Publications

Created: 11 Oct 2020, 3:33 a.m.
Last Modified: 11 Oct 2020, 3:33 a.m.
Panel version: 2.17

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

frontotemporal dementia - a single report in CLN
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
neuronal ceroid lipofuscinosis 1, MONDO:0013866

OMIM

138945

Clinvar variants

Variants in GRN

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

2 Nov 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: GRN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

8 Mar 2022, Gel status: 3