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| Radial Ray Abnormalities v0.44 | RBM8A | Zornitza Stark Marked gene: RBM8A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v0.44 | RBM8A | Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v0.44 | RBM8A | Zornitza Stark Classified gene: RBM8A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v0.44 | RBM8A | Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v0.43 | RBM8A |
Zornitza Stark gene: RBM8A was added gene: RBM8A was added to Radial Ray Abnormalities. Sources: Expert list SV/CNV tags were added to gene: RBM8A. Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000 Review for gene: RBM8A was set to GREEN Added comment: Vast majority are due to a recurrent 200kb deletion on one allele (although truncations are seen) and the presence of 1 of 2 SNPs in trans. The SNPs have a MAF of 3.05% and 0.42%. Sources: Expert list |
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