Rare genetic inflammatory skin disordersGene: SAMHD1
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: SAMHD1; 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, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes AICARDI-GOUTIERES SYNDROME 5; AGS5, CHILBLAIN LUPUS 2; CHBL2 for gene: SAMHD1 Publications for gene SAMHD1 were changed from to 21204240; 19525956
Source London North GLH was added to SAMHD1.
gene: SAMHD1 was added gene: SAMHD1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SAMHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome; Chillblain lupus