| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteopetrosis v0.32 | SLC4A2 | Zornitza Stark Marked gene: SLC4A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.32 | SLC4A2 | Zornitza Stark Gene: slc4a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.32 | SLC4A2 | Zornitza Stark Classified gene: SLC4A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.32 | SLC4A2 | Zornitza Stark Gene: slc4a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.31 | SLC4A2 |
Zornitza Stark gene: SLC4A2 was added gene: SLC4A2 was added to Osteopetrosis. Sources: Literature Mode of inheritance for gene: SLC4A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A2 were set to 34668226; 20507629 Phenotypes for gene: SLC4A2 were set to Osteopetrosis, autosomal recessive 9, MIM# 620366 Review for gene: SLC4A2 was set to AMBER Added comment: Single individual reported with homozygous missense variant. However, cattle and mouse models support gene-disease association. Sources: Literature |
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