Paroxysmal central nervous system disorders
Gene: PRNP
Comment on list classification: Demoted PRNP from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:18 p.m. | Last Modified: 9 Sep 2019, 3:18 p.m.
Panel Version: 0.60
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Prion disease - not appropriate to include in this panel?Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral amyloid angiopathy, PRNP-related, 137440
Gene: prnp has been classified as Red List (Low Evidence).
Gene: prnp has been classified as Red List (Low Evidence).
Phenotypes for gene: PRNP were changed from Cerebral amyloid angiopathy, PRNP-related to Cerebral amyloid angiopathy, PRNP-related, 137440
Mode of inheritance for gene: PRNP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to PRNP.
Source London North GLH was added to PRNP.
Source Wessex and West Midlands GLH was added to PRNP.
Added phenotypes Cerebral amyloid angiopathy, PRNP-related for gene: PRNP
gene: PRNP was added gene: PRNP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 25287017; 27716661; 26768678; 24224623 Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related