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| Ataxia - paediatric v0.187 | BBS2 | Zornitza Stark Marked gene: BBS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.187 | BBS2 | Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.17 | BBS2 |
Bryony Thompson gene: BBS2 was added gene: BBS2 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS2 were set to 15637713 Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 Review for gene: BBS2 was set to RED Added comment: Ataxia is not a reported common feature of this subtype of BBS. Ataxia may be present in one family with BBS2, but not stated outright in the publication (18/21 families had ataxia and there was only one BBS2 family). Sources: Expert list |
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