Ectodermal dysplasia

Gene: PRKD1

The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS.
"Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)"

Created: 14 Mar 2022, 6:03 p.m. | Last Modified: 14 Mar 2022, 6:05 p.m.

Panel Version: 1.37

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

• 27479907
• 32817298