Monogenic hearing loss

Gene: NLRP12

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 5 Dec 2024, 8:33 p.m. | Last Modified: 5 Dec 2024, 8:33 p.m.

Panel Version: 4.62

Comment on list classification: There is sufficient evidence available (three unrelated cases) for the association of NLRP12 with sensorineural hearing loss and hence this gene can be promoted to green rating in the next GMS review.

Created: 11 Apr 2024, 1:26 p.m. | Last Modified: 11 Apr 2024, 1:26 p.m.

Panel Version: 4.33

PMID:18230725 - Two unrelated families from Guadeloupe were reported with a periodic fever syndrome and with monoallelic NLRP12 variants. Of these, twin boys from family 1 had bilateral sensorineural hearing loss.

PMID:24064030 - Six unrelated Italian patients were reported with familial cold autoinflammatory syndrome 2 and NLRP12 variants, of which one patient had sensorineural hearing loss.

PMID:31820221 - Three cases presenting with NLRP12 - autoinflammatory disorder were reported, where one had sensorineural deafness.

NLRP12 has been associated with Familial cold autoinflammatory syndrome 2 (MIM #611762) in OMIM and sensorineural deafness has been listed as one of the clinical presentations of this phenotype.

Sources: Literature

Created: 11 Apr 2024, 1:22 p.m. | Last Modified: 11 Apr 2024, 1:24 p.m.

Panel Version: 4.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial cold autoinflammatory syndrome 2, OMIM:611762; sensorineural hearing loss disorder, MONDO:0020678

Publications

• 18230725
• 24064030
• 31820221