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Table 3 Gene variantsa associated with patient’s clinical phenotype

From: Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

Gene Disease Mode of inheritance Variant Coding DNA Zygosity Inherited from bClassification
NLRP12 NLRP12-related disorder Autosomal dominant / recessive T260 M c.779 C > T Heterozygous Mother Variant of Unknown Significance
NLRP12 NLRP12-related disorder Autosomal dominant / recessive T320 M c.959 C > T Heterozygous Father Variant of Unknown Significance
NLRP12 NLRP12-related disorder Autosomal dominant / recessive G39V c.116 G > T Heterozygous Father Likely benign
MEFV FMF Autosomal dominant / recessive P369S c.1105C > T Heterozygous Father Variant of Unknown Significance
MEFV FMF Autosomal dominant / recessive R408Q c.1223G > A Heterozygous Father Variant of Unknown Significance
  1. avariants were discovered by WES and confirmed by Sanger sequencing
  2. binterpretations from Clinvar at the time of writing
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Pediatric Rheumatology

ISSN: 1546-0096