Inherited white matter disorders
Gene: PSAP
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Publications for PSAP were set to 25655951; 15773042; 2615292; 10682309
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
This gene has been classified as Green List (High Evidence).
PSAP was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Expert list
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
PSAP was created by ellenmcdonagh
PSAP was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen