Neurodegenerative disorders - adult onset
Gene: GRN
TLD-TDP is a type of frontotemporal dementia which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. mean age at onset was 51 years.The frequency was 12.8% (5 of 39) in familial cases and 3.2% (5 of 158) in sporadic cases.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
clinical presentation suggestive of cortico-basal/PSP syndrome; Complex parkinsonism; Frontotemporal Dementia; frontotemporal lobar degeneration with TDP43 inclusions; Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Adult onset frontotemporal lobar degeneration.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
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.
Pathogenic splicing mutations in non-coding exon/intron boundaryCreated: 23 Apr 2019, 5:31 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to GRN.
Source Yorkshire and North East GLH was added to GRN.
Source NHS GMS was added to GRN.
Source London North GLH was added to GRN.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes clinical presentation suggestive of cortico-basal/PSP syndrome; Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions for gene: GRN
gene: GRN was added gene: GRN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRN were set to 20301545; 17923627 Phenotypes for gene: GRN were set to Frontotemporal Dementia; Clinical syndrome FTLD (Frontotemporal lobar degeneration)