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  2. Syndromic Retinopathy
  3. GRN
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Syndromic Retinopathy

Gene: GRN

Green List (high evidence)
GRN (granulin precursor)
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants cause CLN, retinal degeneration prominent. However, also limited reports of retinal abnormalities with mono-allelic variants, which are typically associated with a frontotemporal dementia phenotype.
Created: 11 Oct 2020, 3:35 a.m. | Last Modified: 11 Oct 2020, 3:35 a.m.
Panel Version: 0.104
Retinal degeneration is part of the phenotype.
Sources: Expert Review
Created: 9 Oct 2020, 10:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 11, OMIM #614706

Publications

Created: 9 Oct 2020, 10:29 a.m.
Last Modified: 11 Oct 2020, 3:35 a.m.
Panel version: 0.103

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11, OMIM #614706
OMIM
138945
Clinvar variants
Variants in GRN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRN were set to

9 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grn has been classified as Green List (High Evidence).

9 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grn has been classified as Green List (High Evidence).

9 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRN was added gene: GRN was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, OMIM #614706 Review for gene: GRN was set to GREEN