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Research panel - Severe Paediatric 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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TMEM173; Recommended initial gene rating: Green List (high evidence); Phenotypes: STING-associated vasculopathy, infantile-onset, 615934 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for TMEM173 is STING1 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:55 a.m. | Last Modified: 17 Feb 2020, 10:55 a.m.
Panel Version: 0.7
Created: 17 Feb 2020, 10:55 a.m.
Last Modified: 17 Feb 2020, 10:55 a.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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, 615934 to STING-associated vasculopathy, infantile-onset, OMIM:615934

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TMEM173 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TMEM173 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TMEM173.

14 Feb 2020, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TMEM173. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TMEM173 was added gene: TMEM173 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TMEM173 was set to