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Egyptian Pediatric Association Gazette

Table 1 Next-generation sequencing report of the child

From: Coexistence of mutations of Gilbert’s syndrome and Crigler-Najjar syndrome in an infant with unconjugated hyperbilirubinemia—a case report

Gene transcription

Location

Variant

Zygosity

Disease

Inheritance

Classification

UGT1A1 ( +)

Exon 1

c.164A > G (p.His55Arg)

Homozygous

Crigler-Najjar syndrome type II

Autosomal recessive

Pathogenic

UGT1A1 ( +)

Promoter region

 

Homozygous

Gilbert’s syndrome

Autosomal recessive

Pathogenic

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