Hereditary Spastic Paraplegia - adult onset
Gene: SLC25A15EnsemblGeneIds (GRCh38): ENSG00000102743
EnsemblGeneIds (GRCh37): ENSG00000102743
OMIM: 603861, Gene2Phenotype
SLC25A15 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least four unrelated cases reported with an adult onset spastic paraparesis as a feature of the condition.
Sources: Expert listCreated: 17 Jun 2020, 6:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970
- OMIM
- 603861
- Clinvar variants
- Variants in SLC25A15
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc25a15 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc25a15 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC25A15 was added gene: SLC25A15 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010 Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Review for gene: SLC25A15 was set to GREEN