Bone Marrow Failure
Gene: RPL15EnsemblGeneIds (GRCh38): ENSG00000174748
EnsemblGeneIds (GRCh37): ENSG00000174748
OMIM: 604174, Gene2Phenotype
RPL15 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
7 unrelated individuals reported to date.
Sources: Expert listCreated: 2 Mar 2020, 1:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 12, MIM# 615550
Publications
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
- Expert list
- Phenotypes
-
- Diamond-Blackfan anemia 12, MIM# 615550
- OMIM
- 604174
- Clinvar variants
- Variants in RPL15
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpl15 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpl15 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RPL15 was added gene: RPL15 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL15 were set to 23812780; 29599205 Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550 Review for gene: RPL15 was set to GREEN gene: RPL15 was marked as current diagnostic