| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.29 | MKKS | Bryony Thompson Classified gene: MKKS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.29 | MKKS | Bryony Thompson Gene: mkks has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.28 | MKKS | Bryony Thompson Marked gene: MKKS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.28 | MKKS | Bryony Thompson Gene: mkks has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.28 | MKKS |
Bryony Thompson gene: MKKS was added gene: MKKS was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKKS were set to 15637713 Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231 Review for gene: MKKS was set to AMBER Added comment: Ataxia is not reported as a prominent feature of the phenotype. However, ataxia has been reported in at least 1 case with BBS6. There were four BBS6 cases reported in the publication, and 18/21 BBS cases had ataxia, therefore it is unknown if all 4 cases had ataxia. Sources: Expert list |
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