Non-Fanconi anaemia
Gene: RPL11
Comment on mode of inheritance: Monoallelic mode of inheritance confirmed by OMIM.Created: 4 May 2017, 11:27 a.m.
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 11:26 a.m.
Comment on list classification: Kept rating as Green: Green expert review plus >3 unrelated cases of RPL11 variants cuaing Diamon-Blackfan anaemia.Created: 4 May 2017, 11:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 7
Mode of inheritance for RPL11 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).
Mode of inheritance for RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Source: Expert list
Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL11 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
RPL11 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen