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Molecular autopsy

Gene: PSAP

Green List (high evidence)
PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Atypical Gaucher disease
  • Metachromatic leukodystrophy due to SAP-b deficiency, 249900
  • Combined SAP deficiency
  • Combined SAP deficiency, 611721
  • Prosaposin deficiency (Sphingolipidoses)
  • Atypical Krabbe disease
  • Krabbe disease, atypical, 611722
  • Gaucher disease, atypical, 610539
OMIM
176801
Clinvar variants
Variants in PSAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Atypical Gaucher disease; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Combined SAP deficiency; Combined SAP deficiency, 611721; Prosaposin deficiency (Sphingolipidoses); Atypical Krabbe disease; Krabbe disease, atypical, 611722; Gaucher disease, atypical, 610539 for gene: PSAP

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PSAP was added gene: PSAP was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAP were set to 27604308 Phenotypes for gene: PSAP were set to Atypical Gaucher disease; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Combined SAP deficiency; Combined SAP deficiency, 611721; Prosaposin deficiency (Sphingolipidoses); Atypical Krabbe disease; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722