Inherited white matter disorders
Gene: PSAP

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

2 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_625

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Aug 2016, 2:36 p.m.

Panel version: 0.106

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype Krabbe disease, atypical (611722) in G2P. Numerous variants reported in the listed phenotypes.
Created: 6 Jul 2016, 2:53 p.m.

Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)
Created: 6 Jul 2016, 2:47 p.m.

Created: 6 Jul 2016, 2:47 p.m.

Panel version: 0.96

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Emory Genetics Laboratory
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

OMIM

176801

Clinvar variants

Variants in PSAP

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Jul 2016, Gel status: 4