Glaucoma (developmental)
Gene: GRN
GRN (granulin precursor)
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 15 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEROID LIPOFUSCINOSIS, NEURONAL, 11; 614706
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - narrow panel
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Retinal disorders
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Glaucoma (developmental)
- Amyotrophic lateral sclerosis/motor neuron disease
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)GRN was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory