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Gene: RPS6KA3

Green List (high evidence)
RPS6KA3 (ribosomal protein S6 kinase A3)
EnsemblGeneIds (GRCh38): ENSG00000177189
EnsemblGeneIds (GRCh37): ENSG00000177189
OMIM: 300075, Gene2Phenotype
RPS6KA3 is in 14 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Males more severely affected than females. Phenotype in females are milder and highly variable. Usually de novo however there are reports of male individuals inheriting pathogenic missense variants from unaffected mothers (PMID: 16879200).
Created: 21 Jan 2025, 2:24 a.m. | Last Modified: 21 Jan 2025, 2:24 a.m.
Panel Version: 1.1257

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Coffin-Lowry syndrome, MIM#303600; Intellectual developmental disorder, X-linked 19; MIM#300844

Publications

Created: 21 Jan 2025, 2:24 a.m.
Last Modified: 21 Jan 2025, 2:24 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Coffin-Lowry syndrome, MIM#303600
  • Intellectual developmental disorder, X-linked 19
  • MIM#300844
OMIM
300075
Clinvar variants
Variants in RPS6KA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps6ka3 has been classified as Green List (High Evidence).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, MIM#303600; Intellectual developmental disorder, X-linked 19; MIM#300844

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS6KA3 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Coffin-Lowry syndrome for gene: RPS6KA3

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS6KA3 was added gene: RPS6KA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome