Arthrogryposis
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
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 5 Jan 2017, 8:58 a.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485Myasthenia, limb-girdle, familial, 254300
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- Complete
- Panels with this gene
-
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - childhood onset
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Neuronal ceroid lipofuscinosis
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- Arthrogryposis
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, adult onset
- Structural eye disease
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- Retinal disorders
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
5 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GRN was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GRN was created by ellenmcdonagh