This Panel is marked as Internal
Non-Fanconi anaemia
Gene: RPL27
RPL27 (ribosomal protein L27)
EnsemblGeneIds (GRCh38): ENSG00000131469
EnsemblGeneIds (GRCh37): ENSG00000131469
OMIM: 607526, Gene2Phenotype
RPL27 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000131469
EnsemblGeneIds (GRCh37): ENSG00000131469
OMIM: 607526, Gene2Phenotype
RPL27 is in 5 panels
2 reviews
Mark Greenslade (Bristol Genetics Laboratory)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Kept rating as Red: 1 patient reported so far in OMIM for Diamond-Blackfan anemia 16, MIM:617408 (PMID:25424902, Wang et al., 2015).Created: 2 May 2017, 1:56 p.m.
Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.Created: 2 May 2017, 1:20 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- ?Diamond-Blackfan anemia 16, 617408
- OMIM
- 607526
- Clinvar variants
- Variants in RPL27
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
2 May 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
2 May 2017, Gel status: 1
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for RPL27 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
2 May 2017, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for RPL27 were set to ?Diamond-Blackfan anemia 16, 617408
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RPL27 was added to Non-Fanconi anaemiapanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RPL27 was added to Non-Fanconi anaemiapanel. Source: UKGTN
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RPL27 was added to Non-Fanconi anaemiapanel. Sources: UKGTN