Non-Fanconi anaemia
Gene: RPS17
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 1:43 p.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review plus >3 unrelated cases of RPS17 variants in Diamond-Blackfan anemia.Created: 4 May 2017, 1:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anaemia 4
Mode of inheritance for RPS17 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
RPS17 was added to Non-Fanconi anaemiapanel. Source: Expert list
RPS17 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
RPS17 was added to Non-Fanconi anaemiapanel. Source: UKGTN
RPS17 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
RPS17 was added to Non-Fanconi anaemiapanel. Source: UKGTN
RPS17 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
RPS17 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen