Childhood onset dystonia, chorea or related movement disorder
Gene: PRNPComment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene is almost always in adulthood and poses risk of incidental findings, inclusion of PRNP on this panel should be reviewed by the GMS specialist group.Created: 12 Mar 2024, 4:02 p.m. | Last Modified: 12 Mar 2024, 4:04 p.m.
Panel Version: 3.74
PRNP is associated with multiple disorders some of which feature motor impairments including Gerstmann-Straussler disease (OMIM:137440), Cerebral amyloid angiopathy (OMIM:137440), Creutzfeldt-Jakob disease (OMIM:123400), Huntington disease-like 1 (OMIM:603218).
All of these disorders typically present in adulthood, however very rare cases of age at onset from the second decade of life have been reported, particularly for Creutzfeldt-Jakob disease - however it is worth noting that PRNP analysis was not performed in most adolescent cases (PMID: 3064055; 3915979; 7031189; 1761107).
Literature search only revealed one confirmed familial case of PRNP-related prion disease where a single patient developed symptoms at 13 years of age (PMID:16831973).Created: 12 Mar 2024, 3:59 p.m. | Last Modified: 12 Mar 2024, 3:59 p.m.
Panel Version: 3.71
Publications
Onset of symptoms is generally in adulthood.Created: 10 Sep 2020, 7:28 a.m. | Last Modified: 10 Sep 2020, 7:28 a.m.
Panel Version: 1.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 1, MIM# 603218
Gene: prnp has been classified as Green List (High Evidence).
Phenotypes for gene: PRNP were changed from Creutzfeldt-Jakob disease 123400; Huntington disease-like 1 603218; Cerebral amyloid angiopathy, PRNP-related 137440; Gerstmann-Straussler disease 137440 to Cerebral amyloid angiopathy, PRNP-related, OMIM:137440; Huntington disease-like 1, OMIM:603218; Gerstmann-Straussler disease, OMIM:137440; Creutzfeldt-Jakob disease, OMIM:123400
Publications for gene: PRNP were set to
Tag Q1_24_demote_red tag was added to gene: PRNP. Tag Q1_24_expert_review tag was added to gene: PRNP.
Source PanelApp was added to PRNP. Mode of inheritance for gene PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Creutzfeldt-Jakob disease 123400; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Cerebral amyloid angiopathy, PRNP-related 137440 for gene: PRNP
gene: PRNP was added gene: PRNP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PRNP was set to