Ectodermal dysplasia

Gene: PRKD1

Amber List (moderate evidence)

PRKD1 (protein kinase D1)
EnsemblGeneIds (GRCh38): ENSG00000184304
EnsemblGeneIds (GRCh37): ENSG00000184304
OMIM: 605435, Gene2Phenotype
PRKD1 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are sufficient unrelated cases to support a gene-disease association. Therefore, PRKD1 should be upgraded from Amber to Green at the next major review.
Created: 2 Oct 2020, 1:36 p.m. | Last Modified: 2 Oct 2020, 1:36 p.m.
Panel Version: 1.8
PMID: 27479907 (2016) - Three unrelated cases with de novo missense variants in the PRKD1 gene. Variable characteristics of ectodermal dysplasia included sparse hair, dry or thin skin, fragile nails, and dental abnormalities (premature loss of primary teeth, small widely spaced teeth). Additional features include atrioventricular septal defects or pulmonic stenosis, severe developmental delay and microcephaly. No functional studies of the variants were performed.

PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, respectively. Both displayed features of ectodermal dysplasia such as dry skin, absence of permanent teeth and poor hair growth. Other features included congenital heart defects, skeletal abnormalities and generalised teleangiectasia.
Sources: Literature
Created: 2 Oct 2020, 1:34 p.m.

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

Phenotypes
Congenital heart defects and ectodermal dysplasia, 617364

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, 617364
Tags
for-review
OMIM
605435
Clinvar variants
Variants in PRKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: prkd1 has been classified as Amber List (Moderate Evidence).

2 Oct 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: PRKD1 was added gene: PRKD1 was added to Ectodermal dysplasia. Sources: Literature for-review tags were added to gene: PRKD1. Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKD1 were set to 27479907; 32817298 Phenotypes for gene: PRKD1 were set to Congenital heart defects and ectodermal dysplasia, 617364 Review for gene: PRKD1 was set to GREEN