Cytopenia - NOT Fanconi anaemia

Gene: RPL5

Green List (high evidence)

RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 10 panels

3 reviews

Frances Smith (King's College Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Created: 22 Jul 2019, 1:51 p.m. | Last Modified: 22 Jul 2019, 1:51 p.m.
Panel Version: 0.94
New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Created: 4 May 2019, 8:55 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 6, 612561;Diamond_Blackfan Anemia 6;DIAMOND-BLACKFAN ANEMIA 6; PMID(s): 25946618;19061985;19191325
Created: 6 Feb 2019, 3:13 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 3:12 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia 6, 612561
  • DIAMOND-BLACKFAN ANEMIA 6
  • Diamond Blackfan Anemia 6
  • Diamond-Blackfan Anemia
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
OMIM
603634
Clinvar variants
Variants in RPL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rpl5 has been classified as Green List (High Evidence).

4 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to RPL5.

4 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RPL5 were changed from Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia to Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia

6 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RPL5.

6 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RPL5. Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL5 Publications for gene RPL5 were changed from to 25946618; 19191325; 19061985 Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RPL5 was added gene: RPL5 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL5 was set to