Limb disordersGene: RPS17
Comment when marking as ready: Diamond-Blackfan anaemia is associated with congenital malformations in approx. 50%. Approximately 38% with upper limb abnormality (inc. triphalangeal, bifid, duplex, hypoplastic or absent thumbs). Therefore considered appropriate for inclusion in the broad differential of radial ray disorders.
Created: 11 May 2017, 1:37 p.m.
Comment when marking as ready: Sufficient evidence for causation. Relevant phenotype
Created: 28 Feb 2017, 1:59 p.m.
4 independent cases in the 4 reports. 2 abolish start codon, 1 CNV. All with Diamond-Blackfan anaemia.
Created: 16 Feb 2017, 4:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Diamond-Blackfan anemia 4 612527
Helen Brittain: 4 independent cases in the 4 r
Source Expert Review Green was added to RPS17. Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17 Publications for gene RPS17 were changed from to 17647292; 19953637; 22045982; 19061985
RPS17 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPS17 was created by Ellen McDonagh