Adult onset neurodegenerative disorder
Gene: HTRA2
MGCA8 - AR disorder resulting in death in infancy: red. Parkinson disease type 13: AD - 4 cases described by Strauss et al 2005 with same two variants G399S & A141S; however, association not replicated in a second study. Other missense listed in HGMDPro but with very little supportive evidence for pathogenicity - red/amberCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Parkinson Disease, Dominant; Parkinson disease 13, 610297; 3-methylglutaconic aciduria, type VIII 617248
Publications
Susceptibility to the development of autosomal dominant Parkinson disease-13Created: 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
Parkinson Disease, Dominant; Parkinson disease 13, 610297; 3-methylglutaconic aciduria, type VIII 617248
Publications
Variants in this GENE are reported as part of current diagnostic practice
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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.
Source Expert Review Red was added to HTRA2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to HTRA2.
Source Yorkshire and North East GLH was added to HTRA2.
Source NHS GMS was added to HTRA2.
Source London North GLH was added to HTRA2.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Parkinson Disease, Dominant; Parkinson disease 13, 610297 for gene: HTRA2
gene: HTRA2 was added gene: HTRA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HTRA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 15961413; 27696117; 23462481; 18364387; 27208207; 18401856 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII 617248