PSAP

PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATYPICAL KRABBE DISEASE 611722
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATYPICAL KRABBE DISEASE
R-numbers: R59
Signed-off version 2.2
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 2.3
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 3.2
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 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, atypical 611722, Combined SAP deficiency 611721, Gaucher disease, atypical 610539, Metachromatic leukodystrophy due to SAP-b deficiency 249900
R-numbers: R62
Signed-off version 1.25
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 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined SAP deficiency