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  2. Childhood onset hereditary spastic paraplegia
  3. SLC25A15

Childhood onset hereditary spastic paraplegia

Gene: SLC25A15

Green List (high evidence)
SLC25A15 (solute carrier family 25 member 15)
EnsemblGeneIds (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 Serviceapproval.
Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130
Created: 14 Mar 2022, 1:30 p.m.
Last Modified: 14 Mar 2022, 1:30 p.m.
Panel version: 2.130

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

Created: 31 Aug 2021, 11:02 a.m.
Last Modified: 31 Aug 2021, 11:07 a.m.
Copied from panel: Hereditary spastic paraplegia - adult onset v1.68

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

Created: 22 Sep 2020, 5:20 a.m.

Copied from panel: Hereditary spastic paraplegia - adult onset v1.68

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
OMIM
603861
Clinvar variants
Variants in SLC25A15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating was removed from gene: SLC25A15.

14 Mar 2022, Gel status: 3

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)

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