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  2. Defects of intrinsic and innate immunity
  3. TIRAP
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Defects of intrinsic and innate immunity

Gene: TIRAP

Red List (low evidence)
TIRAP (TIR domain containing adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000150455
EnsemblGeneIds (GRCh37): ENSG00000150455
OMIM: 606252, Gene2Phenotype
TIRAP is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Eight individuals from a single family.
Sources: Expert list
Created: 5 Apr 2020, 8:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Staphylococcal disease during childhood

Publications

Created: 5 Apr 2020, 8:54 a.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Staphylococcal disease during childhood
OMIM
606252
Clinvar variants
Variants in TIRAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tirap has been classified as Red List (Low Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TIRAP was added gene: TIRAP was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIRAP were set to 28235196 Phenotypes for gene: TIRAP were set to Staphylococcal disease during childhood Review for gene: TIRAP was set to RED