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Gene: PSAP

Green List (high evidence)

PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 16 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

The PSAP gene encodes prosaposin, which is the precursor of four smaller proteins called saposin A, B, C, and D, which are produced when prosaposin is cleaved. Patients with two null alleles present with pSap deficiency and fatal infantile lysosomal storage disease. Patients with at least one allele with a mutation impairing only isolated saposins present with disorders resembling impairment of particular hydrolases. Defects of SapB result in metachromatic leukodystrophy.

Other phenotypes:
Mutations in PSAP that interfere with the function of the saposin C protein result in a disorder that resembles a severe form of Gaucher disease (Gaucher disease, atypical, MIM #610539, PMID: 31061751, 2514102). Signs and symptoms of this condition include neurological problems and hepatosplenomegaly.
Defects in SapA lead to atypical Krabbe disease, MIM #611722 (PMID: 15773042).
Combined SAP deficiency, MIM #611721 (PMID: 2514102, 11309366)
Created: 30 Dec 2024, 6:12 a.m. | Last Modified: 30 Dec 2024, 6:12 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900

Publications

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psap has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) to Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PSAP were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) for gene: PSAP

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSAP was added gene: PSAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)