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| Bone Marrow Failure v0.120 | RPL31 | Zornitza Stark Marked gene: RPL31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.120 | RPL31 | Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.120 | RPL31 | Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.120 | RPL31 | Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.119 | RPL31 |
Zornitza Stark gene: RPL31 was added gene: RPL31 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL31 were set to 25042156; 25424902 Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia Review for gene: RPL31 was set to AMBER Added comment: Three individuals reported with DBA phenotype and variants in this gene: one with a large, multi-gene deletion which is de novo. One with a de novo splice site variant that does not disrupt the coding sequence, but is predicted to generate 2 open-reading frames (ORF) upstream of the RPL31 ORF and was thus postulated to impair translation of RPL31 mRNA (arguably a VOUS). The third individual was reported in PMID 25042156 with a missense variant, no segregation or functional data available, this variant is a VOUS. Sources: Expert list |
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