Non-Fanconi anaemia
Gene: RPS7
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 11:50 a.m.
Comment on list classification: Kept rating as Green: Green expert review plus >3 unrelated cases of RPS10 variants in Diamond-Blackfan anaemia patients (taken from OMIM and additional literature).Created: 4 May 2017, 11:50 a.m.
2 splice variants from 3 unrelated cases reported in OMIM (PMID:19061985, PMID:27882484, PMID:23718193). Further splice variants reported in 3 unrelated cases (1 sporadic, 2 familial) in the Russian population in PMID:25946618.Created: 4 May 2017, 11:48 a.m.
Comment on mode of inheritance: Monoallelic mode of inheritance confirmed by OMIM.Created: 4 May 2017, 11:43 a.m.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for RPS7 were set to 23718193; 19061985; 27882484; 25946618
Publications for RPS7 were set to 23718193; 19061985
Mode of inheritance for RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Source: Expert list
Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
RPS7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen