Adult onset hereditary spastic paraplegia
Gene: SLC25A15The 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
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
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
Tag Q3_21_rating was removed from gene: SLC25A15.
Source Expert Review Green was added to SLC25A15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: slc25a15 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010
Tag Q3_21_rating tag was added to gene: SLC25A15.
Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
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