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  3. GRN
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Early onset or syndromic epilepsy

Gene: GRN

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

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Created: 3 Mar 2022, 5:34 p.m.
Last Modified: 3 Mar 2022, 5:34 p.m.
Panel version: 2.491

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Biallic variants in GRN cause Ceroid lipofuscinosis, neuronal, 11, which is characterised by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. There is enough evidence to support a gene-disease association. This gene has been promoted to Amber and should be considered for Green status at the next review.

This gene is also on the Retinal disorders panel (Version 2.71), with the following review:
"Multiple individuals reported with bi-allelic variants and CLN phenotype. Please also note literature regarding retinal abnormalities in those with mono-allelic variants.
Zornitza Stark (Australian Genomics), 11 Oct 2020"
Sources: Literature
Created: 7 Jan 2021, 10:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Jan 2021, 10:19 a.m.

Panel version: 2.252

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: GRN.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to GRN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: grn has been classified as Amber List (Moderate Evidence).

7 Jan 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GRN was added gene: GRN was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: GRN. Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRN were set to 31855245; 28404863; 30922528 Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, OMIM:614706; neuronal ceroid lipofuscinosis 1, MONDO:0013866 Review for gene: GRN was set to GREEN