Inherited white matter disorders

Gene: PSAP

Green List (high evidence)

PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 12 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

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.

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

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PSAP were set to 25655951; 15773042; 2615292; 10682309

6 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PSAP were set to Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Krabbe disease, atypical 611722; Metachromatic leukodystrophy due to SAP-b deficiency 249900

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

PSAP was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Expert list

19 May 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PSAP was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene PSAP was set to BIALLELIC, autosomal or pseudoautosomal

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PSAP was created by ellenmcdonagh

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSAP was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen