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| Mendeliome v1.1235 | CYBRD1 | Zornitza Stark Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1234 | CYBRD1 | Zornitza Stark edited their review of gene: CYBRD1: Changed phenotypes: Iron metabolism disease, MONDO:0002279, CYBRD1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6111 | CYBRD1 | Zornitza Stark Marked gene: CYBRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6111 | CYBRD1 | Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6111 | CYBRD1 |
Zornitza Stark gene: CYBRD1 was added gene: CYBRD1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: CYBRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYBRD1 were set to 15338274 Phenotypes for gene: CYBRD1 were set to Iron overload Review for gene: CYBRD1 was set to RED Added comment: Paucity of publications. One of the variants reported in PMID 15338274, p.Arg226His is present in over 1,000 hets in gnomad. Sources: Expert list |
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