DDG2P
Gene: PKDCC

PKDCC (protein kinase domain containing, cytoplasmic)
EnsemblGeneIds (GRCh38): ENSG00000162878
EnsemblGeneIds (GRCh37): ENSG00000162878
OMIM: 614150, Gene2Phenotype
PKDCC is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature are moderate, biallelic_autosomal and loss of function (PMIDs: 30478137, 36896672, 37592254, 38860479). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03757.
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
PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature; OMIM:618821.0; MONDO:0032935

Publications

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

MONDO:0032935
PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature
OMIM:618821.0

OMIM

614150

Clinvar variants

Variants in PKDCC

Penetrance

None

Publications

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: PKDCC was added gene: PKDCC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKDCC were set to 38860479; 37592254; 30478137; 36896672 Phenotypes for gene: PKDCC were set to MONDO:0032935; PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature; OMIM:618821.0

DDG2P Gene: PKDCC