Rare anaemia

Gene: RPL27

Green List (high evidence)

RPL27 (ribosomal protein L27)
EnsemblGeneIds (GRCh38): ENSG00000131469
EnsemblGeneIds (GRCh37): ENSG00000131469
OMIM: 607526, Gene2Phenotype
RPL27 is in 5 panels

3 reviews

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
617408 ?Diamond-Blackfan anemia 16

Publications

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

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, 3:30 p.m. | Last Modified: 22 Jul 2019, 3:30 p.m.
Panel Version: 0.49
Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Created: 4 May 2019, 8:55 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL27; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 617408 ?Diamond-Blackfan anemia 16; PMID(s): 25424902
Created: 8 Feb 2019, 3:49 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: RPL27; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Diamond-Blackfan anemia;?Diamond-Blackfan anemia 16, 617408; PMID(s): 25424902
Created: 6 Feb 2019, 12:14 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, 12:13 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 16, 617408
  • Diamond-Blackfan anemia
OMIM
607526
Clinvar variants
Variants in RPL27
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: rpl27 has been classified as Green List (High Evidence).

4 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RPL27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408; 617408 ?Diamond-Blackfan anemia 16 to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia

4 May 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 617408 ?Diamond-Blackfan anemia 16 for gene: RPL27

8 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to RPL27.

6 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RPL27.

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 RPL27. Mode of inheritance for gene RPL27 was changed from to Unknown Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408 for gene: RPL27 Publications for gene RPL27 were changed from to 25424902 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: RPL27 was added gene: RPL27 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL27 was set to