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Severe Paediatric Disorders v0.17 | IFT43 | Louise Daugherty Mode of inheritance for gene IFT43 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | IFT43 | Louise Daugherty reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | IFT43 | Louise Daugherty Publications for gene IFT43 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | IFT43 | Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | IFT43 | Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | IFT43 | Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | IFT43 | Louise Daugherty Added phenotypes ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871; Short-rib thoracic dysplasia 18 with polydactyly, 617866 for gene: IFT43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | IFT43 | Louise Daugherty Source Next Generation Children Project was added to IFT43. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | IFT43 |
Louise Daugherty Source Expert Review Green was added to IFT43. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | IFT43 |
Louise Daugherty gene: IFT43 was added gene: IFT43 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: IFT43 was set to |