1. Panels
  2. Hypertrophic cardiomyopathy_HCM
  3. RPS6KB1
STRs in panel
Prev Next
Regions in panel
Prev Next

Hypertrophic cardiomyopathy_HCM

Gene: RPS6KB1

Amber List (moderate evidence)
RPS6KB1 (ribosomal protein S6 kinase B1)
EnsemblGeneIds (GRCh38): ENSG00000108443
EnsemblGeneIds (GRCh37): ENSG00000108443
OMIM: 608938, Gene2Phenotype
RPS6KB1 is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: ClinGen HCVD GCEP has classified this gene as Limited for HCM on 13/09/2023 - https://search.clinicalgenome.org/CCID:006034
Created: 22 Aug 2024, 7:43 a.m. | Last Modified: 22 Aug 2024, 7:43 a.m.
Panel Version: 0.180
Created: 22 Aug 2024, 7:43 a.m.
Last Modified: 22 Aug 2024, 7:43 a.m.
Panel version: 0.180

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Jain et al. 2022 (PMID: 34916228) reported on two unrelated HCM families with the same heterozygous missense RPS6KB1 variant (p.G47W), and subsequently three further unrelated probands with HCM harbouring distinct heterozygous variants (p.Q49K, p.Y62H, respectively). Variants segregated with disease, were predicted pathogenic by silico analyses and were ultrarare or absent in population databases. Functional studies in the HL-1 (mouse cardiomyocytes) cells showed that the patient-specific RPS6KB1 mutant significantly increased cell size and activated rpS6 and ERK1/2 signalling cascades. The relationship between RPS6KB1 and cardiac hypertrophy has also been explored in feline and mice models (PMID: 15226426; 17976640)
Sources: Literature
Created: 7 Dec 2022, 9:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related

Publications

Created: 7 Dec 2022, 9:23 a.m.

Panel version: 0.169

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related
OMIM
608938
Clinvar variants
Variants in RPS6KB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rps6kb1 has been classified as Amber List (Moderate Evidence).

7 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps6kb1 has been classified as Green List (High Evidence).

7 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps6kb1 has been classified as Green List (High Evidence).

7 Dec 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS6KB1 was added gene: RPS6KB1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: RPS6KB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS6KB1 were set to 34916228 Phenotypes for gene: RPS6KB1 were set to Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related Review for gene: RPS6KB1 was set to GREEN