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| Hereditary systemic amyloidosis v1.12 | NLRP3 | Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: NLRP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.12 | NLRP3 | Arina Puzriakova Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome, 191900; AA amyloidosis; renal amyloidosis to Muckle-Wells syndrome, OMIM:191900; Renal amyloidosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.8 | NLRP3 | Arina Puzriakova Classified gene: NLRP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.8 | NLRP3 | Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.8 | NLRP3 | Arina Puzriakova Gene: nlrp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.7 | NLRP3 | Eleanor Williams Tag for-review tag was added to gene: NLRP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.7 | NLRP3 | Rebecca Foulger Classified gene: NLRP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.7 | NLRP3 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. NLRP3 was added to panel and rated Green by Zornitza Stark. Not yet in G2P but sufficient cases to support gene:disease association for NLRP3:Muckle-Wells syndrome, and approx 25-30% of MWS cases have an AA amyloidosis phenotype. Cases of NRLP3 variants in amyloidosis patients reported in PMIDs 30431487, 11992256. In summary: sufficient evidence to support association with MWS, and 25-30% of MWS patients have amyloidosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.7 | NLRP3 | Rebecca Foulger Gene: nlrp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:11992256 (Dode et al., 2002) identify NLRP3 (CIAS1) variants in 9 unrelated families with MWS. AA amyloidosis is recorded amongst the phenotypes in family 1 (R260W variant). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:30431487 (Pandiarajan et al., 2018) report a 10-yr old child with nephrotic syndrome. The patient had a NLRP3 variant (c.1055C>T, p.Ala352Val) and features including AA amyloidosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:31057541 (Fingerhutová et al. 2019) report 1 family (11 individuals) with MWS and a p.Ala441Val variant in NLRP3. 2 patients aged over 50 years suffered with hearing loss and AA amyloidosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:27435956 (Villalba et al., 2016) report a 5-year old MWS patient with T348M variant in NLRP3. They report that amyloidosis and hearing loss is seen in ~25% of patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3: PMID:28229991 (Hu et al., 2017) report a patient with periodic fever, arthralgia and skin lesions and an A92T variant in NLRP3 (p.D31V). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger commented on gene: NLRP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.6 | NLRP3 | Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome, 191900 to Muckle-Wells syndrome, 191900; AA amyloidosis; renal amyloidosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.5 | NLRP3 | Rebecca Foulger Publications for gene: NLRP3 were set to 11687797; 28229991; 27435956; 31057541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.4 | NLRP3 | Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome, 191900 to Muckle-Wells syndrome, 191900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.4 | NLRP3 | Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome to Muckle-Wells syndrome, 191900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v1.0 | NLRP3 |
Zornitza Stark gene: NLRP3 was added gene: NLRP3 was added to Amyloidosis. Sources: Expert list Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 11687797; 28229991; 27435956; 31057541 Phenotypes for gene: NLRP3 were set to Muckle-Wells syndrome Review for gene: NLRP3 was set to GREEN Added comment: Renal amyloidosis described in this disorder. Sources: Expert list |
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