PSAP

prosaposin
OMIM: 176801, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green PSAP in Mucopolysaccharideosis, Gaucher, Fabry Level 3: Lysosomal storage disorders Level 2: Metabolic disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Gaucher disease, atypical, 610539 Combined SAP deficiency, 611721 Krabbe disease, atypical, 611722 Atypical Gaucher disease Atypical Krabbe disease Combined SAP deficiency Atypical Gaucher disease Atypical Krabbe disease Combined SAP deficiency
Green PSAP in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined SAP deficiency
Green PSAP in Lysosomal storage disorder Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	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
Green PSAP in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Krabbe disease, atypical, 611722 Metachromatic leukodystrophy due to SAP-b deficiency, 249900
Green PSAP in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Combined SAP deficiency 611721 Gaucher disease, atypical 610539 Krabbe disease, atypical 611722 Metachromatic leukodystrophy due to SAP-b deficiency 249900
Green PSAP in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes {Parkinson disease 24, autosomal dominant, susceptibility to}, OMIM:619491
Green PSAP in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Prosaposin deficiency (Sphingolipidoses) Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Gaucher disease, atypical, 610539 Combined SAP deficiency, 611721 Krabbe disease, atypical, 611722 Atypical Gaucher disease Atypical Krabbe disease Combined SAP deficiency
Green PSAP in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 PSAP in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ATYPICAL KRABBE DISEASE
Green PSAP in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATYPICAL KRABBE DISEASE 611722
Green PSAP in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined SAP deficiency 611721
Green PSAP in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900Gaucher disease, atypical, 610539Combined SAP deficiency, 611721Krabbe disease, atypical, 611722 ATYPICAL KRABBE DISEASE
Red PSAP in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green PSAP in Krabbe disease - Saposin A deficiency Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined SAP deficiency, OMIM:611721 Krabbe disease, atypical, OMIM:611722 PSAP-related sphingolipidosis, MONDO:0100517