Adult onset neurodegenerative disorder
Gene: CSF1RComment on phenotypes: Previous phenotypes:
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy;Dementia;diffuse leukoencephalopathy with spheroidsCreated: 29 Mar 2021, 9:35 a.m. | Last Modified: 29 Mar 2021, 9:35 a.m.
Panel Version: 2.64
Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. At least 3 cases - greenCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Dementia; diffuse leukoencephalopathy with spheroids
Adult onsetCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Dementia; diffuse leukoencephalopathy with spheroids
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CSF1R were changed from dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Dementia; diffuse leukoencephalopathy with spheroids to dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Source Wessex and West Midlands GLH was added to CSF1R.
Publications for gene CSF1R were changed from 23787135 to 22197934; 23038421; 23787135
Source Yorkshire and North East GLH was added to CSF1R.
Source NHS GMS was added to CSF1R.
Source London North GLH was added to CSF1R.
Louise Daugherty: Comment on phenotypes: amended
Tag adult-onset tag was added to gene: CSF1R.
Added phenotypes dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids for gene: CSF1R
gene: CSF1R was added gene: CSF1R was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSF1R were set to 23787135 Phenotypes for gene: CSF1R were set to Dementia