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Fetal anomalies

Gene: RPS6KC1

Amber List (moderate evidence)
RPS6KC1 (ribosomal protein S6 kinase C1)
EnsemblGeneIds (GRCh38): ENSG00000136643
EnsemblGeneIds (GRCh37): ENSG00000136643
OMIM: 617517, Gene2Phenotype
RPS6KC1 is in 5 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Flagged to go green on UK panelapp epilepsy, ID, HSP. Fetal panel not reviewed by us or Aus. PMID 41130203 13 cases from 8 families -mainly HSP phenotype. 1 case of extensive fetal hydrops. 4/4 that have had brain MRI had thin CC and white matter volume loss, authors flag a high rate of miscarriages in cohort. Not convinced on hydrops evidence but thin CC = green.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, OMIM:621460

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, OMIM:621460
OMIM
617517
Clinvar variants
Variants in RPS6KC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: RPS6KC1 was added gene: RPS6KC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPS6KC1 were set to 41130203 Phenotypes for gene: RPS6KC1 were set to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, OMIM:621460