Adult onset hereditary spastic paraplegia
Gene: SLC25A15EnsemblGeneIds (GRCh38): ENSG00000102743
EnsemblGeneIds (GRCh37): ENSG00000102743
OMIM: 603861, Gene2Phenotype
SLC25A15 is in 9 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. Spasticity can be a predominant presenting feature, and inclusion on the adult onset panel would ensure later onset, as well as edge cases are identified. SLC25A15 should be promoted to Green at the next GMS panel update.Created: 31 Aug 2021, 11:06 a.m. | Last Modified: 31 Aug 2021, 11:06 a.m.
Panel Version: 1.68
Biallelic variants are associated with HHH syndrome. Clinical features include spastic paraplegia (can be a predominant sign), cerebellar ataxia, seizures, and intellectual impairment. Onset of spasticity is largely variable including childhood (PMID: 11355015; 16376511; 18978333; 33314525), adolescent/adult (PMID: 11355015; 18978333; 22465082) onset cases.Created: 31 Aug 2021, 11:02 a.m. | Last Modified: 31 Aug 2021, 11:02 a.m.
Panel Version: 1.66
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Publications
Zornitza Stark (Australian Genomics)
At least four unrelated cases reported with an adult onset spastic paraparesis as a feature of the condition.
Sources: Expert listCreated: 22 Sep 2020, 5:20 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
- Phenotypes
-
- Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
- OMIM
- 603861
- Clinvar variants
- Variants in SLC25A15
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_rating was removed from gene: SLC25A15.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to SLC25A15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc25a15 has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating tag was added to gene: SLC25A15.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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