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| Childhood onset hereditary spastic paraplegia v1.166 | SLC25A46 | Louise Daugherty commented on gene: SLC25A46: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.165 | SLC25A46 |
Louise Daugherty Source Expert Review Amber was added to SLC25A46. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Childhood onset hereditary spastic paraplegia v1.164 | SLC25A46 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.75 | SLC25A46 | Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A46. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.74 | SLC25A46 | Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: None; Publications: 28369803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.74 | SLC25A46 | Louise Daugherty commented on gene: SLC25A46: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.66 | SLC25A46 |
Louise Daugherty commented on gene: SLC25A46: 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 2017 |
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| Childhood onset hereditary spastic paraplegia v1.48 | SLC25A46 | Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.6 | SLC25A46 | James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.5 | SLC25A46 | Louise Daugherty Source NHS GMS was added to SLC25A46. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.4 | SLC25A46 | Louise Daugherty Source London North GLH was added to SLC25A46. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.3 | SLC25A46 | Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.0 | SLC25A46 | Arianna Tucci commented on gene: SLC25A46 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.6 | SLC25A46 |
Sarah Leigh 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 |
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