| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Phagocyte Defects v0.14 | EFL1 | Zornitza Stark Marked gene: EFL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.14 | EFL1 | Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.14 | EFL1 | Zornitza Stark Classified gene: EFL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.14 | EFL1 | Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.13 | EFL1 |
Zornitza Stark gene: EFL1 was added gene: EFL1 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFL1 were set to 28331068; 31151987 Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941 Review for gene: EFL1 was set to GREEN Added comment: Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified. Sources: Expert list |
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