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| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.5 | KIAA0753 | Zornitza Stark Phenotypes for gene: KIAA0753 were changed from Short-rib skeletal dysplasia to Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.4 | KIAA0753 | Zornitza Stark Publications for gene: KIAA0753 were set to 29138412 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v1.3 | KIAA0753 | Zornitza Stark edited their review of gene: KIAA0753: Added comment: Additional families reported.; Changed publications: 29138412, 31816441, 33875766, 34016807; Changed phenotypes: Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.33 | KIAA0753 | Zornitza Stark Marked gene: KIAA0753 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.33 | KIAA0753 | Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.33 | KIAA0753 | Zornitza Stark Classified gene: KIAA0753 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.33 | KIAA0753 | Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.32 | KIAA0753 |
Zornitza Stark gene: KIAA0753 was added gene: KIAA0753 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0753 were set to 29138412 Phenotypes for gene: KIAA0753 were set to Short-rib skeletal dysplasia Review for gene: KIAA0753 was set to GREEN Added comment: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype. Sources: Expert list |
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