Leukodystrophy - adult onset
Gene: PSAP

PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 16 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well established leukodystrophy gene
Created: 14 Sep 2023, 10:31 p.m. | Last Modified: 14 Sep 2023, 10:31 p.m.

Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
metachromatic leukodystrophy due to saposin B deficiency MONDO:0009590

Publications

26462614

Created: 14 Sep 2023, 10:30 p.m.
Last Modified: 14 Sep 2023, 10:30 p.m.
Panel version: 0.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Metachromatic leukodystrophy due to SAP-b deficiency, 249900
Krabbe disease, atypical, 611722

OMIM

176801

Clinvar variants

Variants in PSAP

Penetrance

None

Publications

26462614

Panels with this gene

History Filter Activity

16 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psap has been classified as Green List (High Evidence).

16 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PSAP were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PSAP was added gene: PSAP was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Krabbe disease, atypical, 611722

Leukodystrophy - adult onset Gene: PSAP