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| Mendeliome v0.3241 | KIAA1217 | Zornitza Stark Marked gene: KIAA1217 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3241 | KIAA1217 | Zornitza Stark Gene: kiaa1217 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3241 | KIAA1217 | Zornitza Stark Classified gene: KIAA1217 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3241 | KIAA1217 | Zornitza Stark Gene: kiaa1217 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3240 | KIAA1217 |
Zornitza Stark gene: KIAA1217 was added gene: KIAA1217 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KIAA1217 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIAA1217 were set to 32369272 Phenotypes for gene: KIAA1217 were set to Vertebral anomalies, syndromic and non-syndromic Review for gene: KIAA1217 was set to AMBER Added comment: 10 families reported, however note only 3 of the variants were absent from gnomad, inheritance not reported, most variants are missense. Sources: Literature |
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