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| Ectodermal Dysplasia v0.8 | IFT43 |
Bryony Thompson changed review comment from: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, which is also a gene list. Sources: Expert list; to: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, a skeletal ciliopathy. Sources: Expert list |
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| Ectodermal Dysplasia v0.8 | IFT43 | Bryony Thompson Marked gene: IFT43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.8 | IFT43 | Bryony Thompson Gene: ift43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.8 | IFT43 | Bryony Thompson Classified gene: IFT43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.8 | IFT43 | Bryony Thompson Gene: ift43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.7 | IFT43 |
Bryony Thompson gene: IFT43 was added gene: IFT43 was added to Ectodermal Dysplasia_RMH. Sources: Expert list Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 21378380; 29896747 Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3 MIM#614099 Review for gene: IFT43 was set to AMBER Added comment: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, which is also a gene list. Sources: Expert list |
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