Activity
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3 actions
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| Ataxia - paediatric v0.187 | BBS5 | Zornitza Stark Marked gene: BBS5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.187 | BBS5 | Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.19 | BBS5 |
Bryony Thompson gene: BBS5 was added gene: BBS5 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS5 were set to 15637713 Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 Review for gene: BBS5 was set to RED Added comment: Ataxia is not a common feature reported with this subtype of BBS. One family with linkage to BBS5 (not sequenced) has been reported with ataxia. Sources: Expert list |
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