1. Panels
  2. Red cell disorders
  3. RPL11
STRs in panel
Prev Next
Regions in panel
Prev Next

Red cell disorders

Gene: RPL11

Green List (high evidence)
RPL11 (ribosomal protein L11)
EnsemblGeneIds (GRCh38): ENSG00000142676
EnsemblGeneIds (GRCh37): ENSG00000142676
OMIM: 604175, Gene2Phenotype
RPL11 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 5 Mar 2021, 9:50 a.m. | Last Modified: 5 Mar 2021, 9:50 a.m.
Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938

Publications

Created: 5 Mar 2021, 9:50 a.m.
Last Modified: 5 Mar 2021, 9:50 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 7, MIM# 612562
  • MONDO:0012938
OMIM
604175
Clinvar variants
Variants in RPL11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl11 has been classified as Green List (High Evidence).

14 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPL11 were changed from Diamond_Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 612562 Diamond-Blackfan anemia 7; Diamond-Blackfan Anemia 7; 612562 Diamond_Blackfan Anemia 7; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562 to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Diamond_Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 612562 Diamond-Blackfan anemia 7; Diamond-Blackfan Anemia 7; 612562 Diamond_Blackfan Anemia 7; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562 for gene: RPL11

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL11 was added gene: RPL11 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL11 were set to 19061985; 23812780; 23718193 Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, 612562; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 7; Diamond Blackfan anemia; 612562 Diamond_Blackfan Anemia 7; 612562 Diamond-Blackfan anemia 7