Genodermatoses with malignancies

Gene: ACTRT1

Red List (low evidence)

PMID: 28869610 reported on 6 families with Bazex–Dupré–Christol syndrome. Of these 6 families two families had the same (c.547_548insA, p.Met183Asnfs*17) variant in ACTRT1. The other four families variants were located in transcribed sequences encoding enhancer RNAs (eRNAs) and were shown to impair enhancer activity and ACTRT1 expression.
Rating as red as only one variant identified among the six families with limited pedigree information about the families and not in OMIM or Gene2Phenotype.

Created: 8 Oct 2019, 4:44 p.m. | Last Modified: 9 Oct 2019, 8:04 a.m.

Panel Version: 1.5

Sources: Literature, Expert list

Created: 8 Oct 2019, 4:17 p.m.

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

Phenotypes
Basal cell carcinoma; Bazex–Dupré–Christol syndrome

Publications

• 28869610
• 30653245