Rare genetic inflammatory skin disorders
Gene: TMEM173
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI
Publications
Added new-gene-name tag, new approved HGNC gene symbol for TMEM173 is STING1Created: 6 Sep 2019, 4:15 p.m. | Last Modified: 6 Sep 2019, 4:15 p.m.
Panel Version: 0.13
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: TMEM173; 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: TMEM173 were changed from STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934 to STING-associated vasculopathy, infantile-onset, OMIM:615934
Phenotypes for gene: TMEM173 were changed from SAVI; STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; STING-associated vasculopathy to STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934
Added phenotypes STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI for gene: TMEM173 Publications for gene TMEM173 were changed from to 25029335
Tag new-gene-name tag was added to gene: TMEM173.
Source London North GLH was added to TMEM173.
gene: TMEM173 was added gene: TMEM173 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy