Mucopolysaccharideosis, Gaucher, Fabry
Gene: PSAPComment on mode of inheritance: Changed from monoallelic to biallelic due to expert review and information on OMIM. For atypical Gaucher disease it also seems to be biallelic: PMID: 2060627 identified one mutation in a patient with atypical Gaucher disease likely to be a compound heterozygous, PMID: 8460394 identified a mutation in a patient with atypical Gaucher disease, and in PMID: 15856305 they identify a second mutation in the same patient.Created: 1 Mar 2016, 10:24 a.m.
Comment on list classification: Promoted from amber to green due to expert review, and is a confirmed DD gene for atypical krabbe disease.Created: 29 Feb 2016, 6:15 p.m.
Reports of 3 patients in the literature.Created: 10 Feb 2016, 12:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Atypical Gaucher disease; Atypical Krabbe disease; Combined SAP deficiency
Publications
This gene has been classified as Green List (High Evidence).
Phenotypes for PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Combined SAP deficiency, 611721; Krabbe disease, atypical, 611722; Atypical Gaucher disease; Atypical Krabbe disease; Combined SAP deficiency; Atypical Gaucher disease; Atypical Krabbe disease; Combined SAP deficiency
Publications for PSAP were set to PMID: 2060627; 8460394; 15856305; 17919309
Mode of inheritance for PSAP was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Combined SAP deficiency, 611721; Krabbe disease, atypical, 611722; Atypical Gaucher disease; Atypical Krabbe disease; Combined SAP deficiency
Model of inheritance for gene PSAP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PSAP was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services
PSAP was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen