Familial dysautonomia
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels
3 reviews
Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)
not in the diferential with FDCreated: 8 Dec 2016, 1:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alice Gardham (Genomics England)
Comment on list classification: To stay as amber until all recruited children in pilot study have had their testing and then can promote to greenCreated: 28 Nov 2016, 11:06 a.m.
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Variants also reported in Cerebral amyloid angiopathy, PRNP-related 137440; Creutzfeldt-Jakob disease 123400; Gerstmann-Straussler disease 137440; Huntington disease-like 1 603218; Prion disease with protracted course 606688; {Kuru, susceptibility to} 245300Created: 30 Aug 2016, 12:14 p.m.
Associated with phenotype in OMIM, not in G2P / DD. Variants / SNVs p.D178N and p.Met129Val associated with Insomnia, fatal familial 600072, but also found in unaffected controlsCreated: 30 Aug 2016, 11:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Insomnia, fatal familial 600072
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Insomnia, fatal familial 600072
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Familial dysautonomia
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PRNP were set to Insomnia, fatal familial 600072
Added New Source
Sarah Leigh (Genomics England Curator)PRNP was added to Familial dysautonomiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)PRNP was created by sleigh