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| Rare genetic inflammatory skin disorders v3.5 | NLRP1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.5 | NLRP1 | Achchuthan Shanmugasundram Mode of inheritance for gene: NLRP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.4 | NLRP1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NLRP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.4 | NLRP1 |
Achchuthan Shanmugasundram changed review comment from: 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.; to: 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. |
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| Rare genetic inflammatory skin disorders v3.4 | NLRP1 | Achchuthan Shanmugasundram reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27662089, 27965258, 31873740; Phenotypes: Autoinflammation with arthritis and dyskeratosis, OMIM:617388, Palmoplantar carcinoma, multiple self-healing, OMIM:615225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | NLRP1 |
Catherine Snow Added phenotypes AIADK; AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS for gene: NLRP1 Publications for gene NLRP1 were changed from to 27965258 |
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| Rare genetic inflammatory skin disorders v0.21 | NLRP1 | Tom Cullup reviewed gene: NLRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27965258; Phenotypes: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS, AIADK; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.14 | NLRP1 | Catherine Snow reviewed gene: NLRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.13 | NLRP1 |
Catherine Snow 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 |
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