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Fetal anomalies

Gene: RPS6KA3

Green List (high evidence)

RPS6KA3 (ribosomal protein S6 kinase A3)
EnsemblGeneIds (GRCh38): ENSG00000177189
EnsemblGeneIds (GRCh37): ENSG00000177189
OMIM: 300075, Gene2Phenotype
RPS6KA3 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for COFFIN-LOWRY SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOI listed as Hemizgyous and X-linked dominant for COFFIN-LOWRY SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COFFIN-LOWRY SYNDROME
OMIM
300075
Clinvar variants
Variants in RPS6KA3
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes COFFIN-LOWRY SYNDROME for gene: RPS6KA3

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RPS6KA3 was added gene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME