Research panel - Severe Paediatric Disorders
Gene: PSAP

PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 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

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

30847515

Panels with this gene