Rare genetic inflammatory skin disorders
Gene: 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
Phenotypes for gene: SAMHD1 were changed from Chillblain lupus; Aicardi-Goutieres syndrome; AGS5, CHILBLAIN LUPUS 2; AICARDI-GOUTIERES SYNDROME 5; CHBL2 to ?Chilblain lupus 2, OMIM:614415; AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
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