Hydrops fetalis
Gene: RPL15EnsemblGeneIds (GRCh38): ENSG00000174748
EnsemblGeneIds (GRCh37): ENSG00000174748
OMIM: 604174, Gene2Phenotype
RPL15 is in 9 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Known association with Diamond Blackfan anaemia (~1% of cases) which in turn is known to be associated with congenital malformations (craniofacial, upper limb, heart and genitourinary malformations). 3 of 4 unrelated patients with truncating RPL15 variants had severe non-immune hydrops fetalis and required intrauterine transfusions.
Sources: LiteratureCreated: 2 Feb 2022, 4:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 12 - MIM#615550; hydrops
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Diamond-Blackfan anemia 12 - MIM#615550
- hydrops
- 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
Krithika Murali (Victorian Clinical Genetics Services)gene: RPL15 was added gene: RPL15 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL15 were set to 20301769; 29599205; 23812780 Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12 - MIM#615550; hydrops Review for gene: RPL15 was set to GREEN