Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: PKDCC

Amber List (moderate evidence)

PKDCC (protein kinase domain containing, cytoplasmic)
EnsemblGeneIds (GRCh38): ENSG00000162878
EnsemblGeneIds (GRCh37): ENSG00000162878
OMIM: 614150, Gene2Phenotype
PKDCC is in 1 panel

4 reviews

Ivone Leong (Genomics England Curator)

Based on the expert review by Michael Oldridge (NHS), the mouse model in PMID: 30478137 is of compatible phenotype with the disease. Therefore, there is enough evidence for this gene to be Green. This gene has been tagged for-review at the next panel review.
Created: 1 Feb 2021, 11:40 a.m. | Last Modified: 1 Feb 2021, 11:40 a.m.
Panel Version: 2.81

Michael Oldridge (NHS)

Green List (high evidence)

2 unrelated individuals with homozygous pathogenic variants (+1 splice site and nonsense). Both with rhizomelic shortening and other dysmorphic features. K/O mouse model has compatible phenotype with long bone shortening and craniofacial abnormalities.
Created: 30 Jan 2021, 4:36 p.m. | Last Modified: 30 Jan 2021, 4:36 p.m.
Panel Version: 2.80

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
rhizomelic limb shortening; facial dysmorphism

Publications

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting this gene from grey to amber. 2 cases plus mouse knockout, with a similar but not exactly the same phenotype to the cases reported.
Created: 20 Jan 2021, 12:34 p.m. | Last Modified: 20 Jan 2021, 12:34 p.m.
Panel Version: 2.53
Associated with Rhizomelic limb shortening with dysmorphic features #618821 (AR) in OMIM.

As reported by Expert Reviewer PMID:30478137 (Sajan et al 2019) reports two cases of patients with rhizomelic shortening of limbs and dysmorphic features who were found by exome sequencing to have homozgyous variants in PKDCC (one a nonsense variant, one a splice variant). Parents were heterozygous for the variants. PMID:19097194 (Imuta et al 2009) reports that Pkdcc-/- mice have abnormalities at birth that include short limbs, cleft palate, sternal dysraphia, and shortened intestine.
Created: 20 Jan 2021, 12:32 p.m. | Last Modified: 20 Jan 2021, 12:32 p.m.
Panel Version: 2.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelic limb shortening with dysmorphic features OMIM:618821; rhizomelic limb shortening with dysmorphic features MONDO:0032935

Publications

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated consanguineous families reported with different homozygous variants
Pre-existing mouse model has similar phenotype
Sources: Literature
Created: 23 Apr 2020, 3:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelia; dysmorphism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Rhizomelia
  • dysmorphism
Tags
for-review
OMIM
614150
Clinvar variants
Variants in PKDCC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: PKDCC.

20 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pkdcc has been classified as Amber List (Moderate Evidence).

23 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PKDCC was added gene: PKDCC was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKDCC were set to 30478137; 19097194 Phenotypes for gene: PKDCC were set to Rhizomelia; dysmorphism Review for gene: PKDCC was set to AMBER