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Additional findings_Paediatric

Gene: RPL5

Green List (high evidence)

RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 13 panels

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Details

History Filter Activity

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL5 was added gene: RPL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia