Multiple monogenic benign skin tumours
Gene: ACTRT1
This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.Created: 19 Feb 2019, 7:43 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ACTRT1; Suggested initial gene rating: Green; Evidence for inclusion: PMID:28869610; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 29 Jan 2019, 10:38 a.m.
Tag curated_removed tag was added to gene: ACTRT1.
Source Expert Review Removed was added to ACTRT1. Rating Changed from Green List (high evidence) to No List (delete)
Source London North GLH was added to ACTRT1.
gene: ACTRT1 was added gene: ACTRT1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACTRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTRT1 were set to 28869610 Phenotypes for gene: ACTRT1 were set to Bazex syndrome