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STRs in panel
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Primary immunodeficiency

Gene: TLR7

Amber List (moderate evidence)

TLR7 (toll like receptor 7)
EnsemblGeneIds (GRCh38): ENSG00000196664
EnsemblGeneIds (GRCh37): ENSG00000196664
OMIM: 300365, Gene2Phenotype
TLR7 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Phenotype is more relevant to a severe COVID-19 clinical course - this gene is already Green on the COVID-19 research panel (Version 1.69).
Therefore, rating Amber, but this can be reviewed if new evidence emerges.
Created: 18 Sep 2020, 2:08 p.m. | Last Modified: 18 Sep 2020, 2:08 p.m.
Panel Version: 2.193

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four affected individuals from two unrelated families and some functional data.
Sources: Literature
Created: 7 Sep 2020, 10:02 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051
OMIM
300365
Clinvar variants
Variants in TLR7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tlr7 has been classified as Amber List (Moderate Evidence).

7 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TLR7 was added gene: TLR7 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TLR7 were set to 32706371 Phenotypes for gene: TLR7 were set to Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 Review for gene: TLR7 was set to GREEN