Familial dysautonomia
Gene: PRNP
not in the diferential with FDCreated: 8 Dec 2016, 1:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
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
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PRNP were set to Insomnia, fatal familial 600072
PRNP was added to Familial dysautonomiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
PRNP was created by sleigh