Hereditary spastic paraplegia

Gene: SLC25A46

Green List (high evidence)

SLC25A46 (solute carrier family 25 member 46)
EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 9:06 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 10 variants reported
Created: 15 Sep 2017, 2:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary motor and sensory, type VIB 616505

Publications

History Filter Activity

15 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC25A46 was created by sleigh

15 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SLC25A46 was added to Hereditary spastic paraplegiapanel. Sources: Literature