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| Phagocyte Defects v2.0 | CYBC1 | Gene symbol changed from C17orf62 to CYBC1 during gene set migration (ENSG00000178927 -> ENSG00000178927) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.26 | C17orf62 |
Zornitza Stark gene: C17orf62 was added gene: C17orf62 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984 Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease Review for gene: C17orf62 was set to GREEN Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name). Sources: Expert list |
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