Rare genetic inflammatory skin disorders

Gene: NLRP1

Amber List (moderate evidence)

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: There is sufficient evidence available for the association of monoallelic NLRP1 variants to this panel with green rating. However, the evidence is not sufficient enough (two unrelated cases) for biallelic variants. Hence, the MOI should be changed to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' and this gene should be recommended for upgrade to green rating in the next GMS review.
Created: 2 Nov 2023, 2:48 p.m. | Last Modified: 2 Nov 2023, 2:48 p.m.
Panel Version: 3.5
There are five unrelated cases with monoallelic NLRP1 variants and two unrelated cases with biallelic NLRP1 variants reported with inflammatory skin conditions. Some of these variants are reported to be gain-of-function.

This gene has also been associated with relevant phenotypes in both OMIM and Gene2Phenotype.
Created: 2 Nov 2023, 2:45 p.m. | Last Modified: 2 Nov 2023, 2:46 p.m.
Panel Version: 3.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammation with arthritis and dyskeratosis, OMIM:617388; Palmoplantar carcinoma, multiple self-healing, OMIM:615225

Publications

Mode of pathogenicity
Other

Tom Cullup (Great Ormond Street Hospital)

I don't know

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

Publications

Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:NLRP1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • AIADK
  • AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
Tags
Q4_23_promote_green
OMIM
606636
Clinvar variants
Variants in NLRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: NLRP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Nov 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: NLRP1.

12 Dec 2019, Gel status: 2

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes AIADK; AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS for gene: NLRP1 Publications for gene NLRP1 were changed from to 27965258

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: NLRP1 was added gene: NLRP1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal