Adult onset neurodegenerative disorder
Gene: HTRA1
Onset in teens to late twenties (range 14 to 44 years)Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: HTRA1 were changed from Dementia; CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779 to dementia (disease), MONDO:0001627; CARASIL syndrome, OMIM:600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, OMIM:616779
Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were changed from Dementia to Dementia; CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
Publications for gene HTRA1 were changed from to 19387015; 24500651
Source Yorkshire and North East GLH was added to HTRA1.
Gene: htra1 has been classified as Green List (High Evidence).
Source NHS GMS was added to HTRA1.
Source London North GLH was added to HTRA1.
Rebecca Foulger: Gene awaiting curator evaluati
gene: HTRA1 was added gene: HTRA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HTRA1 was set to Unknown Phenotypes for gene: HTRA1 were set to Dementia