Mucopolysaccharideosis, Gaucher, Fabry
Gene: PSAPEnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Helen Savage (Congenica Ltd)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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
- OMIM
- 176801
- Clinvar variants
- Variants in PSAP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Mucopolysaccharideosis, Gaucher, Fabry
- DDG2P
- Likely inborn error of metabolism
- Inherited white matter disorders
- Krabbe disease - Saposin A deficiency
- Adult onset leukodystrophy
- Lysosomal storage disorder
- Fetal anomalies
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Intellectual disability
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PSAP were set to PMID: 2060627; 8460394; 15856305; 17919309
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PSAP was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PSAP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)PSAP was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)PSAP was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen