Childhood onset hereditary spastic paraplegia
Gene: SLC25A46
Childhood onset; a single family with mild spasticity.Created: 10 May 2019, 9:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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.
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
Onset in childhoodCreated: 25 Feb 2019, 10:54 a.m.
Source Expert Review Amber was added to SLC25A46. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to SLC25A46.
Source NHS GMS was added to SLC25A46.
Source London North GLH was added to SLC25A46.
Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Arianna Tucci: Onset at birth
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