Lysosomal storage disorder
Gene: PSAPEnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 panels
2 reviews
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Krabbe disease, atypical 611722; Metachromatic leukodystrophy due to SAP-b deficiency 249900
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
- Phenotypes
-
- Krabbe disease, atypical OMIM:611722
- Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720
- Combined SAP deficiency OMIM:611721
- encephalopathy due to prosaposin deficiency MONDO:0012719
- Gaucher disease, atypical OMIM:610539
- atypical Gaucher disease due to saposin C deficiency MONDO:0012517
- Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900
- metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
- OMIM
- 176801
- Clinvar variants
- Variants in PSAP
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Mucopolysaccharideosis, Gaucher, Fabry
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Krabbe disease - Saposin A deficiency
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
- Lysosomal storage disorder
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PSAP were changed from Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900 to Krabbe disease, atypical OMIM:611722; Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720; Combined SAP deficiency OMIM:611721; encephalopathy due to prosaposin deficiency MONDO:0012719; Gaucher disease, atypical OMIM:610539; atypical Gaucher disease due to saposin C deficiency MONDO:0012517; Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900; metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PSAP was added gene: PSAP was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAP were set to Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900