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  3. RPS7
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Non-Fanconi anaemia

Gene: RPS7

Green List (high evidence)
RPS7 (ribosomal protein S7)
EnsemblGeneIds (GRCh38): ENSG00000171863
EnsemblGeneIds (GRCh37): ENSG00000171863
OMIM: 603658, Gene2Phenotype
RPS7 is in 8 panels

3 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

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.
Created: 4 May 2017, 11:48 a.m.

Panel version: 0.290

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anaemia 8

Publications

Created: 26 Jan 2016, 2:24 p.m.

Panel version: 0.228

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 8, 612563
  • Diamond Blackfan anemia
OMIM
603658
Clinvar variants
Variants in RPS7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for RPS7 were set to 23718193; 19061985; 27882484; 25946618

4 May 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for RPS7 were set to 23718193; 19061985

4 May 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Source: Expert list

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen