Genomics England
GMS Panels
Panels
Genes and Entities

PSAP

prosaposin
OMIM: 176801
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATYPICAL KRABBE DISEASE 611722
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATYPICAL KRABBE DISEASE
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined SAP deficiency 611721
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
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, Gaucher disease, atypical, 610539, Krabbe disease, atypical, 611722
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metachromatic leukodystrophy due to SAP-b deficiency, 249900Gaucher disease, atypical, 610539Combined SAP deficiency, 611721Krabbe disease, atypical, 611722, ATYPICAL KRABBE DISEASE
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
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
Green
in White matter disorders - adult onset
R-numbers: R62
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, atypical, 611722, Metachromatic leukodystrophy due to SAP-b deficiency, 249900
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined SAP deficiency