White matter disorders and cerebral calcification - childhood onset
Gene: PSAP
PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Combined SAP deficiency
- OMIM
- 176801
- Clinvar variants
- Variants in PSAP
- Penetrance
- None
- Publications
-
- 249900
- Panels with this gene
-
- Fetal anomalies
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Lysosomal storage disorder
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Krabbe disease - Saposin A deficiency
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- DDG2P
- Inherited white matter disorders
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PSAP was added gene: PSAP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAP were set to 249900 Phenotypes for gene: PSAP were set to Combined SAP deficiency