Vascular skin disorders

Gene: TMEM173

Green List (high evidence)

TMEM173 (transmembrane protein 173)
EnsemblGeneIds (GRCh38): ENSG00000184584
EnsemblGeneIds (GRCh37): ENSG00000184584
OMIM: 612374, Gene2Phenotype
TMEM173 is in 5 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for TMEM173 is STING1
Created: 6 Sep 2019, 4:14 p.m. | Last Modified: 6 Sep 2019, 4:14 p.m.
Panel Version: 0.12

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • STING-associated vasculopathy
Tags
new-gene-name
OMIM
612374
Clinvar variants
Variants in TMEM173
Penetrance
None
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: TMEM173.

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to TMEM173.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TMEM173 was added gene: TMEM173 was added to Vascular 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