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DDG2P v3.12 | RPL11 | Achchuthan Shanmugasundram reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19191325, 19773262, 19061985; Phenotypes: Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | RPL11 | Achchuthan Shanmugasundram Publications for gene: RPL11 were updated from 19191325; 19061985; 19773262 to 19191325; 19061985; 19773262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.91 | RPL11 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for RPL11 Disease: Diamond-Blackfan anemia with cleft palate and abnormal thumbs in DDG2P but have set MOI to 'Monoallelic' to match OMIM (MIM:612562) and other panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.91 | RPL11 | Rebecca Foulger Mode of inheritance for gene: RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | RPL11 | Rebecca Foulger reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | RPL11 |
Rebecca Foulger gene: RPL11 was added gene: RPL11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL11 was set to Publications for gene: RPL11 were set to 19191325; 19061985; 19773262 Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs |