Rare anaemia

Gene: RPL35A

Green List (high evidence)

RPL35A (ribosomal protein L35a)
EnsemblGeneIds (GRCh38): ENSG00000182899
EnsemblGeneIds (GRCh37): ENSG00000182899
OMIM: 180468, Gene2Phenotype
RPL35A is in 9 panels

5 reviews

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia 5; DIAMOND-BLACKFAN ANEMIA 5

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 4:04 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
612528 Diamond_Blackfan Anemia 5

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
612528 Diamond-Blackfan anemia 5

Publications

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 5, 612528;Diamond_Blackfan Anemia 5;DIAMOND-BLACKFAN ANEMIA 5; PMID(s): none submitted
Created: 18 Feb 2019, 2:28 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612528 Diamond_Blackfan Anemia 5; PMID(s): none submitted
Created: 14 Feb 2019, 4:05 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: RPL35A; 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: 612528 Diamond-Blackfan anemia 5; PMID(s): 18535205
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: RPL35A; 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 5, 612528;Diamond_Blackfan Anemia 5;DIAMOND-BLACKFAN ANEMIA 5; PMID(s): 25946618;18535205
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
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 612528 Diamond_Blackfan Anemia 5
  • Diamond-Blackfan Anemia 5
  • Diamond-Blackfan anemia 5, 612528
  • Diamond-Blackfan Anemia
  • 612528 Diamond-Blackfan anemia 5
  • DIAMOND-BLACKFAN ANEMIA 5
  • Inherited Bone Marrow Failure Syndromes
  • Diamond_Blackfan Anemia 5
  • Diamond Blackfan anemia
OMIM
180468
Clinvar variants
Variants in RPL35A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Diamond-Blackfan Anemia 5; Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL35A

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to RPL35A.

14 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 612528 Diamond_Blackfan Anemia 5 for gene: RPL35A

14 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to RPL35A.

8 Feb 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 612528 Diamond-Blackfan anemia 5 for gene: RPL35A Publications for gene RPL35A were changed from 25946618; 18535205 to 18535205

8 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to RPL35A.

6 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RPL35A.

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 RPL35A. Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 5; Diamond Blackfan anemia for gene: RPL35A Publications for gene RPL35A were changed from to 25946618; 18535205 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: RPL35A was added gene: RPL35A was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL35A was set to