Cardiomyopathy_Paediatric
Gene: RPL3LEnsemblGeneIds (GRCh38): ENSG00000140986
EnsemblGeneIds (GRCh37): ENSG00000140986
OMIM: 617416, Gene2Phenotype
RPL3L is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.
PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: LiteratureCreated: 6 Jun 2021, 9:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cardiomyopathy, dilated, 2D, MIM# 619371
- Neonatal dilated cardiomyopathy
- OMIM
- 617416
- Clinvar variants
- Variants in RPL3L
- 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: rpl3l has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpl3l 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: RPL3L was added gene: RPL3L was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPL3L were set to 32514796; 32870709 Phenotypes for gene: RPL3L were set to Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy Review for gene: RPL3L was set to GREEN