Ectodermal dysplasiaGene: PRKD1
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.
Created: 2 Oct 2020, 1:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital heart defects and ectodermal dysplasia, 617364
Gene: prkd1 has been classified as Amber List (Moderate Evidence).
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