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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 5 panels

3 reviews

Kristin Rigbye (Victorian Clinical Genetics Services)

I don't know

2 consanguineous families reported with homozygous variants for predicted to cause a loss of function (gene-disease association already established for autosomal dominant CHD due to de novo missense variants.)

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: 8 Jun 2021, 6:50 a.m. | Last Modified: 8 Jun 2021, 6:50 a.m.
Panel Version: 0.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal Recessive Congenital Heart Disease

Publications

Created: 8 Jun 2021, 6:50 a.m.
Last Modified: 8 Jun 2021, 6:50 a.m.
Panel version: Imported from Congenital Heart Defect panel version 0.113

Arina Puzriakova (Genomics England)

I don't know

- PMID: 27479907 (2016) - Only two of the three patients had ID, which may possibly be secondary to microcephaly. The two individuals carried a c.1774G>A and c.896T>G variant, respectively; however, a third patient also harbouring the c.1774G>A variant did not display any neuropsychological signs (or microcephaly) at 4.86 years (see supplementary table 12).

- PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, respectively. These patients shared cardiac and ectodermal abnormalities, as with the previously described patients; however, mental development was normal in both individuals.
Created: 2 Oct 2020, 12:52 p.m. | Last Modified: 2 Oct 2020, 12:52 p.m.
Panel Version: 0.3047

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital heart defects and ectodermal dysplasia, 617364

Publications

Created: 2 Oct 2020, 12:52 p.m.
Last Modified: 2 Oct 2020, 12:52 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3047

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 27479907 (2016): three individuals reported, two with the c.1774G>A variant and one with the c.896T>G variant. All had congenital heart disease, two had some developmental delay, and two had variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth; the third individuals had a 'disorganized eyebrow.'

PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, and telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. Functional analysis using in vitro kinase assays with recombinant proteins showed that the c.1808G>A, p.(Arg603His) variant represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The c.1774G>C, p.(Gly592Arg) variant in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation.

c.1774G>C, p.(Gly592Arg) is recurrent, reported in 3/5 individuals.
Created: 1 Mar 2022, 7:51 a.m. | Last Modified: 1 Mar 2022, 7:51 a.m.
Panel Version: 0.4513

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital heart defects and ectodermal dysplasia, MIM#617364

Publications

Created: 11 May 2020, 11:06 a.m.
Last Modified: 11 May 2020, 11:06 a.m.
Panel version: 0.4513

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, MIM#617364
OMIM
605435
Clinvar variants
Variants in PRKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkd1 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKD1 were changed from Syndromic congenital heart defects to Congenital heart defects and ectodermal dysplasia, MIM#617364

1 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKD1 was added gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKD1 were set to 32817298; 33919081; 27479907; 25713110 Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects