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  3. RPS7
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Fetal anomalies

Gene: RPS7

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

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4:01 p.m. | Last Modified: 1 Feb 2021, 4:01 p.m.
Panel Version: 1.505
Created: 1 Feb 2021, 4:01 p.m.
Last Modified: 1 Feb 2021, 4:01 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Radial dysplasia
Sources: Expert list
Created: 28 Jan 2021, 3:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Diamond-Blackfan anemia 8

Created: 28 Jan 2021, 3:41 p.m.

Panel version: 1.196

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia 8, OMIM:612563
  • Diamond-Blackfan anemia 8, MONDO:0012939
OMIM
603658
Clinvar variants
Variants in RPS7
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: RPS7.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to RPS7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RPS7 were changed from Diamond-Blackfan anemia 8 to Diamond-Blackfan anemia 8, OMIM:612563; Diamond-Blackfan anemia 8, MONDO:0012939

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rps7 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: RPS7.

28 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rhiannon Mellis (Great Ormond Street Hospital)

gene: RPS7 was added gene: RPS7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8 Review for gene: RPS7 was set to GREEN