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Severe Paediatric Disorders

Gene: PSAP

Green List (high evidence)

PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 15 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PSAP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Combined SAP deficiency, 611721 (3) | Gaucher disease, atypical, 610539 (3) | Krabbe disease, atypical, 611722 (3) | Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3); Mode of inheritance: Autosomal recessive | ND | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
176801
Clinvar variants
Variants in PSAP
Penetrance
None
Publications
Panels with this gene