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| Hereditary spastic paraplegia v1.155 | ATP13A2 | Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.154 | ATP13A2 | Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.153 | ATP13A2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by PMID:28137957 and OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.153 | ATP13A2 | Rebecca Foulger Mode of inheritance for gene: ATP13A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.152 | ATP13A2 | Rebecca Foulger Classified gene: ATP13A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.152 | ATP13A2 | Rebecca Foulger Added comment: Comment on list classification: Updating rating from Red to Green based on literature evidence. ATP13A2 was added to panel and rated Red by Chris Buxton (Bristol NHS) although he provides evidence of 3 unrelated cases in PMID:28137957. PMID:27217339 (Kara et al 2016) provides evidence of an additional case. Therefore sufficient (4) unrelated cases to support diagnostic rating, and ATP13A2 is associated with Spastic paraplegia 78, autosomal recessive, 617225 in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.152 | ATP13A2 | Rebecca Foulger Gene: atp13a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.151 | ATP13A2 | Rebecca Foulger commented on gene: ATP13A2: In a 46-year-old man (proband 41), born of consanguineous Pakistani parents, with AR spastic paraplegia, Kara et al. (2016, PMID:27217339) identified a homozygous 3-bp deletion (c.3020_3022del, NM_001141974.2), resulting in an in-frame deletion (Phe1007del). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.151 | ATP13A2 | Rebecca Foulger commented on gene: ATP13A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.131 | ATP13A2 | Sarah Leigh Classified gene: ATP13A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.131 | ATP13A2 | Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.131 | ATP13A2 | Sarah Leigh Gene: atp13a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.71 | ATP13A2 |
Chris Buxton gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 28137957 Phenotypes for gene: ATP13A2 were set to Adult-onset lower-limb predominant spastic paraparesis Penetrance for gene: ATP13A2 were set to unknown Review for gene: ATP13A2 was set to RED Added comment: Estrada-Cuzcano (2017, 28137957). Biallelic LoF varaints cause complicated hereditary spastic paraplegia. Exome study identified biallelic missense . Further analysis of 795 HSP /erlated disorders identified 2 families with truncating ATP13A2 variants. Some supportive functional studies. Clin: Adult-onset lower-limb predominant spastic paraparesis Sources: Literature |
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