This Panel is marked as Internal
Intellectual disability update Jan 2018
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
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Associated with Aphasia, primary progressive (MIM:607485), Ceroid lipofuscinosis, neuronal, 11 (MIM:614706), Frontotemporal lobar degeneration with ubiquitin-positive inclusions (MIM:607485) in OMIM but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.Created: 21 Feb 2018, 10:23 a.m.
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- None
- Panels with this gene
-
- Neuronal ceroid lipofuscinosis
- Adult onset neurodegenerative disorder
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Retinal disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Glaucoma (developmental)
- Amyotrophic lateral sclerosis/motor neuron disease
History Filter Activity
21 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
21 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)GRN was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)GRN was created by Ellen McDonagh