Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ataxia - paediatric v0.187 | BBS4 | Zornitza Stark Marked gene: BBS4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.187 | BBS4 | Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.18 | BBS4 |
Bryony Thompson gene: BBS4 was added gene: BBS4 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 Review for gene: BBS4 was set to RED Added comment: Ataxia is not a reported feature of the phenotype of this subtype of BBS. Sources: Expert list |