White matter disorders and cerebral calcification - narrow panel
Gene: ASPAEnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 10 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951
- OMIM
- 608034
- Clinvar variants
- Variants in ASPA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
History Filter Activity
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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ASPA were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951 to General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ASPA was added gene: ASPA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 25655951 Phenotypes for gene: ASPA were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951