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Newborns main panel

Gene: NLRP12

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

1 review

Mafalda Gomes (Genomics England Curator)

Gene REMOVED because of specialist opinion and by testing pipeline many LOF variants come through which we would not know how to interpret.
Created: 7 Jul 2023, 9:52 a.m. | Last Modified: 7 Jul 2023, 9:52 a.m.
Panel Version: 0.147
The mechanism of pathogenicity might be loss-of-function (LOF) but this is not established. So no LOF prioritisation algorithm.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:48 a.m.
Panel Version: 0.147
PMID: 31820221 - review 52 patients from literature
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:48 a.m.
Panel version: 0.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Familial cold autoinflammatory syndrome 2
OMIM
609648
Clinvar variants
Variants in NLRP12
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Familial cold autoinflammatory syndrome 2 for gene: NLRP12

14 Jul 2023, Gel status: 2

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: NLRP12 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

14 Jul 2023, Gel status: 2

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: NLRP12 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 2

Set mode of pathogenicity, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene NLRP12 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Familial cold autoinflammatory syndrome 2 for gene: NLRP12

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF/LOF was removed from gene: NLRP12.

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to NLRP12. Added phenotypes Familial cold autoinflammatory syndrome 2 for gene: NLRP12 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NLRP12. Added phenotypes Familial cold autoinflammatory syndrome 2 for gene: NLRP12 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF/LOF tag was added to gene: NLRP12.

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NLRP12 was added gene: NLRP12 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown