Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Autoinflammatory Disorders
Gene: NLRP12

NLRP12 (NLR family pyrin domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000142405
EnsemblGeneIds (GRCh37): ENSG00000142405
OMIM: 609648, Gene2Phenotype
NLRP12 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic variants associated with FCAS2 in multiple unrelated families
Created: 23 Mar 2022, 8:34 p.m. | Last Modified: 23 Mar 2022, 8:34 p.m.

Panel Version: 0.137

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial cold autoinflammatory syndrome 2 - MIM#611762

Publications

Created: 23 Mar 2022, 8:34 p.m.
Last Modified: 23 Mar 2022, 8:34 p.m.
Panel version: 0.137

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Familial cold autoinflammatory syndrome 2 - MIM#611762

OMIM

Clinvar variants

Variants in NLRP12

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrp12 has been classified as Green List (High Evidence).

24 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762

24 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NLRP12 were set to

24 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NLRP12 was added gene: NLRP12 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: NLRP12 was set to Unknown