Activity
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5 actions
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| Mendeliome v0.6800 | RHBDF1 | Zornitza Stark Marked gene: RHBDF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6800 | RHBDF1 | Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6800 | RHBDF1 | Zornitza Stark Classified gene: RHBDF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6800 | RHBDF1 | Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6799 | RHBDF1 |
Zornitza Stark gene: RHBDF1 was added gene: RHBDF1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHBDF1 were set to 32870709 Phenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy Review for gene: RHBDF1 was set to AMBER Added comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant. Sources: Literature |
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