Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Embryology Laboratory, |
RCV000496147 | SCV000540921 | pathogenic | Congenital NAD deficiency disorder | 2016-12-23 | criteria provided, single submitter | research | This variant was discovered in a consanguineous family of Middle East origin. The patient presented multiple congenital malformations affecting vertebrae, heart, kidney among others. This variant is a protein truncating variant and novel (ExAC MAF 0). The patient is homozygous, while her unaffected parents and four unaffected siblings are either wildtype or heterozygous for this variant. Enzyme assay confirmed that the protein product of this gene variant has lost enzyme activity. Mouse embryos homozygous null for Kynu presented similar phenotype as observed in the patient, and also showed reduced concentration of NAD in the embryonic tissue. |
OMIM | RCV000505804 | SCV000600000 | pathogenic | Vertebral, cardiac, renal, and limb defects syndrome 2 | 2017-09-21 | no assertion criteria provided | literature only |