PSAP

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
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATYPICAL KRABBE DISEASE
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined SAP deficiency 611721
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
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
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
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined SAP deficiency