Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Genodermatoses with malignancies v1.6 ACTRT1 Catherine Snow Phenotypes for gene: ACTRT1 were changed from Basal cell carcinoma to Basal cell carcinoma; Bazex–Dupré–Christol syndrome
Genodermatoses with malignancies v1.5 ACTRT1 Catherine Snow changed review comment from: 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.; to: 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.
Genodermatoses with malignancies v1.5 ACTRT1 Catherine Snow changed review comment from: 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.; to: 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.
Genodermatoses with malignancies v1.5 ACTRT1 Catherine Snow edited their review of gene: ACTRT1: Added comment: 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.; Changed rating: RED; Changed phenotypes: Basal cell carcinoma, Bazex–Dupré–Christol syndrome
Genodermatoses with malignancies v1.5 ACTRT1 Catherine Snow 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
Added comment: Sources: Literature, Expert list
Genodermatoses with malignancies PTCH2 Eleanor Williams edited their review of PTCH2
Genodermatoses with malignancies PTCH2 Eleanor Williams classified PTCH2 as Amber List (moderate evidence)
Genodermatoses with malignancies PTCH2 Eleanor Williams commented on PTCH2
Genodermatoses with malignancies PTCH2 Eleanor Williams commented on PTCH2