Radial dysplasia
Gene: 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 phenotypeCreated: 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
Phenotypes
Diamond-Blackfan anemia 4 612527
Publications
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
Phenotypes for RPS17 were set to Diamond-Blackfan anemia 4, 612527
Publications for RPS17 were set to 17647292; 19061985; 19953637; 22045982
This gene has been classified as Green List (High Evidence).
RPS17 was created by rfoulger
RPS17 was added to Radial dysplasiapanel. Sources: Other