Genodermatoses with malignanciesGene: ACTRT1
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
Basal cell carcinoma; Bazex–Dupré–Christol syndrome
Phenotypes for gene: ACTRT1 were changed from Basal cell carcinoma to Basal cell carcinoma; Bazex–Dupré–Christol syndrome
gene: ACTRT1 was added gene: ACTRT1 was added to Genodermatoses with malignancies. Sources: Literature,Expert list Mode of inheritance for gene: ACTRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTRT1 were set to 28869610; 30653245 Phenotypes for gene: ACTRT1 were set to Basal cell carcinoma Review for gene: ACTRT1 was set to AMBER