Childhood onset hereditary spastic paraplegia
Gene: SLC25A46EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 16 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Childhood onset; a single family with mild spasticity.Created: 10 May 2019, 9:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Louise Daugherty (Genomics England Curator)
Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Green rating on Hereditary spastic paraplegia panel 1.198
Associated with phenotype in OMIM, not in G2P. At least 10 variants reported
Sarah Leigh (Genomics England Curator), 15 Sep 2017Created: 2 May 2019, 4:45 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Victoria: causes Neuropathy, hereditary motor and sensory, type VIB and pontocerebellar hypoplasiaCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, type VIB, 616505
Arianna Tucci (Genomics England Curator)
Onset in childhoodCreated: 25 Feb 2019, 10:54 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Literature
- Phenotypes
-
- Neuropathy, hereditary motor and sensory, type VIB, 616505
- OMIM
- 610826
- Clinvar variants
- Variants in SLC25A46
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to SLC25A46. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SLC25A46.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC25A46.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SLC25A46.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Onset at birth
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to 28369803; 26168012 Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505