Leukodystrophy - adult onset

Gene: PRNP

Green List (high evidence)

PRNP (prion protein)
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

White-matter abnormalities have been reported in inherited prion diseases
Sources: Other
Created: 1 Apr 2024, 8:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
fatal familial insomnia MONDO:0010808

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • fatal familial insomnia MONDO:0010808
OMIM
176640
Clinvar variants
Variants in PRNP
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prnp has been classified as Green List (High Evidence).

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prnp has been classified as Green List (High Evidence).

1 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: PRNP was added gene: PRNP was added to Leukodystrophy - adult onset. Sources: Other Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 25220284; 24252267 Phenotypes for gene: PRNP were set to fatal familial insomnia MONDO:0010808 Mode of pathogenicity for gene: PRNP was set to Other Review for gene: PRNP was set to GREEN gene: PRNP was marked as current diagnostic