Adult onset neurodegenerative disorder

Gene: CSF1R

Comment on phenotypes: Previous phenotypes:
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy;Dementia;diffuse leukoencephalopathy with spheroids

Created: 29 Mar 2021, 9:35 a.m. | Last Modified: 29 Mar 2021, 9:35 a.m.

Panel Version: 2.64

Green List (high evidence)

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 - green

Created: 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

Green List (high evidence)

Adult onset

Created: 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

• 22197934
• 23038421

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice