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Rare genetic inflammatory 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)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI

Publications

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for TMEM173 is STING1
Created: 6 Sep 2019, 4:15 p.m. | Last Modified: 6 Sep 2019, 4:15 p.m.
Panel Version: 0.13
Created: 6 Sep 2019, 4:15 p.m.
Last Modified: 6 Sep 2019, 4:15 p.m.
Panel version: 0.13

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, 2:02 p.m.

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

Created: 31 Jan 2019, 2:02 p.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
new-gene-name
OMIM
612374
Clinvar variants
Variants in TMEM173
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TMEM173 were changed from STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934 to STING-associated vasculopathy, infantile-onset, OMIM:615934

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TMEM173 were changed from SAVI; STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; STING-associated vasculopathy to STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI for gene: TMEM173 Publications for gene TMEM173 were changed from to 25029335

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 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