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  3. RPS7
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Anaemias and red cell disorders

Gene: RPS7

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Diamond Blackfan Anaemia (DBA)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 8, 612563
  • Diamond_Blackfan Anemia 8
  • DIAMOND-BLACKFAN ANEMIA 8
OMIM
603658
Clinvar variants
Variants in RPS7
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

22 Jul 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services RPS7 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS7 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPS7 was created by ellenmcdonagh