Hereditary spastic paraplegia - childhood onset

Gene: SLC25A15

Amber List (moderate evidence)

SLC25A15 (solute carrier family 25 member 15)
EnsemblGeneIds (GRCh38): ENSG00000102743
EnsemblGeneIds (GRCh37): ENSG00000102743
OMIM: 603861, Gene2Phenotype
SLC25A15 is in 10 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least four unrelated cases reported with an adult onset spastic paraparesis as a feature of the condition.
Sources: Expert list
Created: 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 Amber
  • Expert list
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Tags
Q3_21_rating
OMIM
603861
Clinvar variants
Variants in SLC25A15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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