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  3. TMEM173
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Autoinflammatory Disorders

Gene: TMEM173

Green List (high evidence)
TMEM173 (transmembrane protein 173)
EnsemblGeneIds (GRCh38): ENSG00000184584
EnsemblGeneIds (GRCh37): ENSG00000184584
OMIM: 612374, Gene2Phenotype
TMEM173 is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

A recurrent partial gain-of-function missense (p.R281W) has been reported homozygous in multiple families. 2 copies of the variant is required to cause disease, and heterozygous individuals are unaffected.
Created: 16 Dec 2024, 5:11 a.m. | Last Modified: 16 Dec 2024, 5:11 a.m.
Panel Version: 1.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
STING-associated vasculopathy with onset in infancy MONDO:0014405

Publications

Created: 16 Dec 2024, 5:11 a.m.
Last Modified: 16 Dec 2024, 5:11 a.m.
Panel version: 1.70

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported.
Sources: Expert list
Created: 5 Apr 2020, 9:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
STING-associated vasculopathy, infantile-onset, MIM# 615934

Publications

Mode of pathogenicity
Other

Created: 5 Apr 2020, 9:14 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • STING-associated vasculopathy, infantile-onset, MIM# 615934
OMIM
612374
Clinvar variants
Variants in TMEM173
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TMEM173 were set to 25401470; 25029335

16 Dec 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: TMEM173 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem173 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMEM173 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem173 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM173 was added gene: TMEM173 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM173 were set to 25401470; 25029335 Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM# 615934 Mode of pathogenicity for gene: TMEM173 was set to Other Review for gene: TMEM173 was set to GREEN