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| Skeletal dysplasia v0.322 | NEK9 | Zornitza Stark Phenotypes for gene: NEK9 were changed from Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia to NEK9-related lethal skeletal dysplasia MONDO:0014870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.321 | NEK9 | Zornitza Stark edited their review of gene: NEK9: Changed phenotypes: NEK9-related lethal skeletal dysplasia MONDO:0014870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.33 | NEK9 | Zornitza Stark Tag founder tag was added to gene: NEK9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.33 | NEK9 | Zornitza Stark Marked gene: NEK9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.33 | NEK9 | Zornitza Stark Gene: nek9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.33 | NEK9 |
Zornitza Stark gene: NEK9 was added gene: NEK9 was added to Skeletal dysplasia. Sources: Expert list Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK9 were set to 26908619 Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia Review for gene: NEK9 was set to RED Added comment: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data. Sources: Expert list |
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