Activity
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3 actions
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| Mendeliome v0.4205 | DHX34 | Zornitza Stark Marked gene: DHX34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4205 | DHX34 | Zornitza Stark Gene: dhx34 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4205 | DHX34 |
Zornitza Stark gene: DHX34 was added gene: DHX34 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DHX34 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHX34 were set to 31256877 Phenotypes for gene: DHX34 were set to Intellectual disability; congenital anomalies Review for gene: DHX34 was set to RED Added comment: Three families reported. Two with bi-allelic variants and ID/multiple congenital anomalies but another molecular diagnosis present in both (variants in established genes). Single de novo missense in another individual with ID and dysmorphism. No supporting functional data. Overall RED rating for both MOI. Sources: Literature |
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