1. Genes and Genomic Entities
  2. PSAP

PSAP

prosaposin
OMIM: 176801, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green PSAP in Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2

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


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

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


    Version 3.3
    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


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 1.180

    		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


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		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 1.617

    		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 - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATYPICAL KRABBE DISEASE
    Green PSAP in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green PSAP in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined SAP deficiency, 611721
    • Metachromatic leukodystrophy due to SAP-b deficiency, 249900
    • Gaucher disease, atypical, 610539
    • Krabbe disease, atypical, 611722
    Green PSAP in Krabbe disease - Saposin A deficiency


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS