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  3. NLRP1
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: NLRP1

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

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autoinflammation with arthritis and dyskeratosis, MIM#617388
  • Recurrent respiratory papillomatosis
  • Palmoplantar carcinoma, multiple self-healing, 615225
OMIM
606636
Clinvar variants
Variants in NLRP1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: NLRP1 was added gene: NLRP1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NLRP1 were set to 27662089; 27965258; 31484767 Phenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis, MIM#617388; Recurrent respiratory papillomatosis; Palmoplantar carcinoma, multiple self-healing, 615225 Mode of pathogenicity for gene: NLRP1 was set to Other