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  3. PRKD1
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Fetal anomalies

Gene: PRKD1

Green List (high evidence)
PRKD1 (protein kinase D1)
EnsemblGeneIds (GRCh38): ENSG00000184304
EnsemblGeneIds (GRCh37): ENSG00000184304
OMIM: 605435, Gene2Phenotype
PRKD1 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: MOI was reassessed following a recent review by Zornitza Stark highlighting the potential involvement of biallelic variants. Currently the evidence for biallelic inheritance only suffices for an Amber rating and so I have kept the MOI as monoallelic but with a 'watchlist_MOI' tag to monitor for additional evidence. The Genomics England pipeline would still pick up biallelic cases under the current MOI.
Created: 12 Aug 2021, 9:48 a.m. | Last Modified: 12 Aug 2021, 9:48 a.m.
Panel Version: 1.705
Created: 12 Aug 2021, 9:48 a.m.
Last Modified: 12 Aug 2021, 9:48 a.m.
Panel version: 1.705

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Additional publications supporting association with bi-allelic disease:

PMID: 33919081: Three sisters with pulmonary stenosis, truncus arteriosis, and atrial septal defect were homozygous for c.265-1G>T. Their asymptomatic father was also homozygous, however he had two affected sisters (not genotyped), raising the possibility that PRKD1 may undergo autosomal recessive inheritance mode with gender limitation. PMID: 25713110: Two sisters with truncus arteriosis were homozygous for R618X.
Created: 11 Jun 2021, 10:35 a.m. | Last Modified: 11 Jun 2021, 10:35 a.m.
Panel Version: 1.674

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital heart defects and ectodermal dysplasia, 617364; Congenital heart disease, autosomal recessive

Publications

Created: 11 Jun 2021, 10:35 a.m.
Last Modified: 11 Jun 2021, 10:35 a.m.
Panel version: 1.674

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for Syndromic congenital heart defects
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.150

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic congenital heart defects
Tags
watchlist_moi
OMIM
605435
Clinvar variants
Variants in PRKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Aug 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PRKD1 were set to

12 Aug 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist_moi tag was added to gene: PRKD1.

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PRKD1 was added gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects