Vascular skin disordersGene: ACVRL1
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: ACVRL1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.
Source London North GLH was added to ACVRL1.
gene: ACVRL1 was added gene: ACVRL1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to Hereditary haemorrhagic telengiectasia