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Krabbe disease - Saposin A deficiency
Gene: PSAP
PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #611721 & #611722) and the OMIM records were last accessed on 20 December 2025.Created: 20 Dec 2025, 6:46 p.m. | Last Modified: 20 Dec 2025, 6:46 p.m.
Panel Version: 1.2
PSAP has been added to the panel for R281 Krabbe disease - Saposin A deficiency with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:23 p.m. | Last Modified: 30 Jun 2023, 2:23 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Combined SAP deficiency, OMIM:611721
- Krabbe disease, atypical, OMIM:611722
- PSAP-related sphingolipidosis, MONDO:0100517
- OMIM
- 176801
- Clinvar variants
- Variants in PSAP
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Krabbe disease - Saposin A deficiency
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PSAP were changed from to Combined SAP deficiency, OMIM:611721; Krabbe disease, atypical, OMIM:611722; PSAP-related sphingolipidosis, MONDO:0100517
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: PSAP was added gene: PSAP was added to Krabbe disease - Saposin A deficiency. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal