| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.5 | AP1S2 | Bryony Thompson Marked gene: AP1S2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.5 | AP1S2 | Bryony Thompson Gene: ap1s2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.5 | AP1S2 | Bryony Thompson Classified gene: AP1S2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.5 | AP1S2 | Bryony Thompson Gene: ap1s2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.4 | AP1S2 |
Bryony Thompson gene: AP1S2 was added gene: AP1S2 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340 Review for gene: AP1S2 was set to GREEN Added comment: Ataxia is part of the phenotype Sources: Expert list |
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