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| Mendeliome v1.3870 | SPAG9 | Zornitza Stark Marked gene: SPAG9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3870 | SPAG9 | Zornitza Stark Gene: spag9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3870 | SPAG9 |
Zornitza Stark gene: SPAG9 was added gene: SPAG9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG9 were set to 39846792 Phenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related Review for gene: SPAG9 was set to RED Added comment: PMID 39846792 reports 2 individuals from 2 families with the same biallelic loss-of-function frameshift variant in SPAG9 presenting with coarse facial features, albinism, cataract, skeletal abnormalities and severe developmental delay. Limited functional data, possible founder variant. Sources: Literature |
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