Gene Symbol:
PSAP
HGNC:9498
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q22.1
Filters:

Definitive classifications

Krabbe disease, atypical, due to saposin A deficiency
Submitted as: OMIM:611722
AR
07/22/2015
Evaluated
11/25/2020
Submitted

Strong classifications

Krabbe disease, atypical, due to saposin A deficiency
Submitted as: OMIM:611722
AR
02/18/2020
Evaluated
03/31/2021
Submitted
encephalopathy due to prosaposin deficiency
Submitted as: OMIM:611721
AR
02/18/2020
Evaluated
03/31/2021
Submitted
atypical Gaucher disease due to saposin C deficiency
Submitted as: OMIM:610539
AR
02/18/2020
Evaluated
03/31/2021
Submitted
metachromatic leukodystrophy due to saposin b deficiency
Submitted as: OMIM:249900
AR
02/18/2020
Evaluated
03/31/2021
Submitted

Moderate classifications

atypical Gaucher disease due to saposin C deficiency
Submitted as: OMIM:610539
AR
08/31/2018
Evaluated
03/02/2021
Submitted
metachromatic leukodystrophy due to saposin b deficiency
Submitted as: OMIM:249900
AR
08/31/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

encephalopathy due to prosaposin deficiency
Submitted as: Orphanet:139406
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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