1. Panels
  2. Disorders of immune dysregulation
  3. TLR7
STRs in panel
Prev Next
Regions in panel
Prev Next

Disorders of immune dysregulation

Gene: TLR7

Green List (high evidence)
TLR7 (toll like receptor 7)
EnsemblGeneIds (GRCh38): ENSG00000196664
EnsemblGeneIds (GRCh37): ENSG00000196664
OMIM: 300365, Gene2Phenotype
TLR7 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

XLD: only affected females reported; 4 individuals from three unrelated families. Mouse model.
Sources: Expert list
Created: 12 May 2022, 8:34 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Systemic lupus erythematosus 17, MIM# 301080

Publications

Created: 12 May 2022, 8:34 p.m.

Panel version: 0.136

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Systemic lupus erythematosus 17, MIM# 301080
OMIM
300365
Clinvar variants
Variants in TLR7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tlr7 has been classified as Green List (High Evidence).

12 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

12 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tlr7 has been classified as Green List (High Evidence).

12 May 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TLR7 was added gene: TLR7 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TLR7 were set to 35477763 Phenotypes for gene: TLR7 were set to Systemic lupus erythematosus 17, MIM# 301080 Review for gene: TLR7 was set to GREEN