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| Mendeliome v1.1198 | ATP2B4 | Zornitza Stark Phenotypes for gene: ATP2B4 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2349 | ATP2B4 | Bryony Thompson Marked gene: ATP2B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2349 | ATP2B4 | Bryony Thompson Gene: atp2b4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2349 | ATP2B4 | Bryony Thompson Classified gene: ATP2B4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2349 | ATP2B4 | Bryony Thompson Gene: atp2b4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2348 | ATP2B4 |
Bryony Thompson gene: ATP2B4 was added gene: ATP2B4 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP2B4 were set to 25119969; 25798335; 29691679 Phenotypes for gene: ATP2B4 were set to Hereditary spastic paraplegia Review for gene: ATP2B4 was set to AMBER Added comment: One Chinese family segregating a missense variant with HSP and one HSP case with a assumed de novo nonsense variant. Supporting in vitro functional assays for the missense variant. Sources: Expert list |
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