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  2. Nucleotide metabolism disorders
  3. TMEM173
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Nucleotide metabolism 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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported.
Created: 3 Apr 2022, 8:41 a.m. | Last Modified: 3 Apr 2022, 8:41 a.m.
Panel Version: 0.12483

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 3 Apr 2022, 8:41 a.m.
Last Modified: 3 Apr 2022, 8:41 a.m.
Panel version: Imported from Mendeliome panel version 0.12483

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • STING-associated vasculopathy with onset in infancy MONDO:0014405
OMIM
612374
Clinvar variants
Variants in TMEM173
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM173 was added gene: TMEM173 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM173 were set to 25029335; 25401470 Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy with onset in infancy MONDO:0014405