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  3. NLRP12
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Autoinflammatory disorders

Gene: NLRP12

Green List (high evidence)
NLRP12 (NLR family pyrin domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000142405
EnsemblGeneIds (GRCh37): ENSG00000142405
OMIM: 609648, Gene2Phenotype
NLRP12 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Created: 16 Feb 2022, 11:44 a.m.
Last Modified: 16 Feb 2022, 11:44 a.m.
Panel version: 0.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Familial cold autoinflammatory syndrome 2, OMIM:611762
OMIM
609648
Clinvar variants
Variants in NLRP12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to NLRP12.

11 Jan 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: NLRP12 was added gene: NLRP12 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NLRP12 were set to 21360512; 27779193; 27633793; 29178652; 18230725; 29248470 Phenotypes for gene: NLRP12 were set to Familial cold autoinflammatory syndrome 2, OMIM:611762