Mucopolysaccharideosis, Gaucher, Fabry

Gene: PSAP

Green List (high evidence)

PSAP (prosaposin)
EnsemblGeneIds (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)

Green List (high evidence)

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

History Filter Activity

1 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Feb 2016, Gel status: 4

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

29 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PSAP were set to PMID: 2060627; 8460394; 15856305; 17919309

29 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PSAP was changed to BIALLELIC, autosomal or pseudoautosomal

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Feb 2016, Gel status: 2

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

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene PSAP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PSAP was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PSAP was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen