Retinal disorders
Gene: GRNComment 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
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
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
frontotemporal dementia - a single report in CLNCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Mode of inheritance for gene: GRN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag for-review was removed from gene: GRN.
Source Expert Review Green was added to GRN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: grn has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: GRN.
Mode of inheritance for gene: GRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRN were changed from Eye Disorders to Ceroid lipofuscinosis, neuronal, 11, OMIM:614706; neuronal ceroid lipofuscinosis 1, MONDO:0013866
Publications for gene: GRN were set to
Source NHS GMS was added to GRN.
GRN was created by ellenmcdonagh
GRN was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red