DDG2P
Gene: RPS6KC1

RPS6KC1 (ribosomal protein S6 kinase C1)
EnsemblGeneIds (GRCh38): ENSG00000136643
EnsemblGeneIds (GRCh37): ENSG00000136643
OMIM: 617517, Gene2Phenotype
RPS6KC1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum are moderate, biallelic_autosomal and loss of function (PMID:41130203). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03904.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum; MONDO:0100038

Publications

41130203

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum
MONDO:0100038

OMIM

617517

Clinvar variants

Variants in RPS6KC1

Penetrance

None

Publications

41130203

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RPS6KC1 was added gene: RPS6KC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum; MONDO:0100038

DDG2P Gene: RPS6KC1