Table 2.
Details of the results of whole genome sequencing.
| Gene and transcript | Variant | Chromosomal location | Associated diseases | OMIM entry no. | Zygosity | CADD score† | dbSNP rsID‡ | Acmg classification | Inheritance |
|---|---|---|---|---|---|---|---|---|---|
|
DIAPH1
NM_005219.5 |
Exon23 c.3145C > T p.R1049X |
chr5-140908023G > A | Seizures, cortical blindness, and microcephaly | 616632 | Hom | 37 | rs863225243 | Pathogenic | AR |
|
| |||||||||
| Secondary findings | |||||||||
|
DNAJC3
NM_006260.5 |
Exon10 c.1129C > T p.R377X |
chr13-96438246 C > T |
Combined cerebellar and peripheral ataxia, hearing loss, and diabetes | 616192 | Het | 40 | rs1403662008 | Likely pathogenic | AR |
AMCG, American College of Medical Genetics; AR, Autosomal Recessive; Het, Heterozygous; Hom, Homozygous; OMIM, Online Mendelian Inheritance in Man.† CADD score of 20 means that a variant is among the top 1% of deleterious variants in the human genome. A CADD score of 30 means that the variant is in the top 0.1% and so forth.‡ All variants with dbSNP rsID numbers have minor allele frequencies less than 0.5% unless otherwise stated.