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Dystonia, chorea or related movement disorder, childhood onset v5.3 PRNP Sarah Leigh Tag Q1_24_demote_red was removed from gene: PRNP.
Tag Q1_24_expert_review was removed from gene: PRNP.
Dystonia, chorea or related movement disorder, childhood onset v5.3 PRNP Sarah Leigh reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, childhood onset v5.2 PRNP Sarah Leigh Source NHS GMS was added to PRNP.
Source Expert Review Red was added to PRNP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.74 PRNP Arina Puzriakova changed review comment from: Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene, inclusion on this panel should be reviewed by the GMS specialist group.; to: Comment 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.
Dystonia, chorea or related movement disorder, childhood onset v3.74 PRNP Arina Puzriakova Classified gene: PRNP as Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.74 PRNP Arina Puzriakova Added comment: Comment on list classification: Given that the age of onset associated with the multiple phenotypes related to this gene, inclusion on this panel should be reviewed by the GMS specialist group.
Dystonia, chorea or related movement disorder, childhood onset v3.74 PRNP Arina Puzriakova Gene: prnp has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, childhood onset v3.73 PRNP Arina Puzriakova 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
Dystonia, chorea or related movement disorder, childhood onset v3.72 PRNP Arina Puzriakova Publications for gene: PRNP were set to
Dystonia, chorea or related movement disorder, childhood onset v3.71 PRNP Arina Puzriakova Tag Q1_24_demote_red tag was added to gene: PRNP.
Tag Q1_24_expert_review tag was added to gene: PRNP.
Dystonia, chorea or related movement disorder, childhood onset v3.71 PRNP Arina Puzriakova reviewed gene: PRNP: Rating: ; Mode of pathogenicity: None; Publications: 16831973; Phenotypes: ; Mode of inheritance: None
Dystonia, chorea or related movement disorder, childhood onset v1.51 PRNP Zornitza Stark reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Huntington disease-like 1, MIM# 603218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia, chorea or related movement disorder, childhood onset v0.7 PRNP Ellen McDonagh 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
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRNP Ellen McDonagh 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