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Retinal disorders

Gene: GRN

Green List (high evidence)

GRN (granulin precursor)
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 13 panels

3 reviews

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

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

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

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: GRN.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (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

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: GRN.

6 Jan 2021, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

6 Jan 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GRN were changed from Eye Disorders to Ceroid lipofuscinosis, neuronal, 11, OMIM:614706; neuronal ceroid lipofuscinosis 1, MONDO:0013866

6 Jan 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GRN were set to

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GRN.

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GRN was created by ellenmcdonagh

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRN was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red