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  3. GRN
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Genetic Epilepsy

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 22608501 - 2 siblings with a homozygous PTC and neuronal ceroid lipofuscinosis. Both showed vision deterioration in their mid 20s, with MRI revealing cerebellar atrophy and ataxia

PMID: 31855245 - 6 patients (4 families) with homozygous PTCs and start-loss. 5/6 report vision impairement, 6/6 cognitive deterioration, 3/6 cerebellar involvement, 3/6 seizures. Reviews previous reports, age of onset varies from 7-56 years old and seizures reported in a total of 7/11 patients.
Sources: Literature
Created: 6 Jul 2020, 3:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 11 614706

Publications

Created: 6 Jul 2020, 3:03 a.m.

Panel version: 0.737

Details

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

History Filter Activity

6 Jul 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).

6 Jul 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).

6 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: GRN was added gene: GRN was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRN were set to PMID: 22608501; 31855245 Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11 614706 Review for gene: GRN was set to GREEN