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| Severe Paediatric Disorders v0.17 | KIF1BP | Louise Daugherty Mode of inheritance for gene KIF1BP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | KIF1BP | Louise Daugherty edited their review of gene: KIF1BP: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KIFBP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Goldberg-Shprintzen megacolon syndrome, 609460 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | KIF1BP | Louise Daugherty Publications for gene KIF1BP were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | KIF1BP | Louise Daugherty Added phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 for gene: KIF1BP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | KIF1BP | Louise Daugherty Added phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 for gene: KIF1BP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | KIF1BP | Louise Daugherty Added phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 for gene: KIF1BP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | KIF1BP | Louise Daugherty Added phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 for gene: KIF1BP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | KIF1BP | Louise Daugherty commented on gene: KIF1BP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | KIF1BP | Louise Daugherty Source Next Generation Children Project was added to KIF1BP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.6 | KIF1BP | Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | KIF1BP |
Louise Daugherty Source Expert Review Green was added to KIF1BP. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | KIF1BP |
Louise Daugherty gene: KIF1BP was added gene: KIF1BP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: KIF1BP was set to |
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