Childhood onset hereditary spastic paraplegia
Gene: SLC25A15The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130
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, particularly in early-onset cases. 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, 11:07 a.m.
Panel Version: 2.82
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 was added gene: SLC25A15 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Amber Q3_21_rating tags were added to gene: SLC25A15. Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 11355015; 16376511; 18978333; 22465082; 28592010; 33314525 Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970