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  2. Susceptibility to Viral Infections
  3. NLRP1
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Susceptibility to Viral Infections

Gene: NLRP1

Red List (low evidence)
NLRP1 (NLR family pyrin domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000091592
EnsemblGeneIds (GRCh37): ENSG00000091592
OMIM: 606636, Gene2Phenotype
NLRP1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with homozygous GoF variants in siblings with recurrent respiratory papillomatosis. Note gene is associated with multiple, mono- and bi-allelic immunological phenotypes.
Sources: Expert list
Created: 29 Apr 2020, 8:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Recurrent respiratory papillomatosis

Publications

Created: 29 Apr 2020, 8:24 a.m.

Panel version: 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Recurrent respiratory papillomatosis
OMIM
606636
Clinvar variants
Variants in NLRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrp1 has been classified as Red List (Low Evidence).

29 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: NLRP1 was added gene: NLRP1 was added to Susceptibility to Viral Infections. Sources: Expert list Mode of inheritance for gene: NLRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NLRP1 were set to 31484767 Phenotypes for gene: NLRP1 were set to Recurrent respiratory papillomatosis Review for gene: NLRP1 was set to RED