Table 2 Variants identified in the WES data whose corresponding genes have been associated with mendelian disorders
Gene containing a pathogenic variant | Disease/Phenotype listed in OMIM | Phenotype in the proband |
|---|---|---|
CLDN16 | • Hypomagnesemia | Not documented |
COL6A2 | • Bethlem myopathy 1 • Ullrich congenital muscular dystrophy 1 • ?Myosclerosis | Not documented |
COL6A3 | • Bethlem myopathy 1 • Dystonia 27 • Ullrich congenital muscular dystrophy 1 | Not documented |
FANCD2 | • Fanconi anemia | Not documented |
GPR179 | • Night blindness, Congenital stationary (complete) • 1E, autosomal recessive | Not documented |
LFNG | • ?Spondylocostal dysostosis 3\autosomal recessive | Not documented |
NOTCH3 | • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 • Lateral meningocele syndrome • ?Myofibromatosis, infantile 2 | Not documented |
PKP2 | • Arrhythmogenic right ventricular cardiomyopathy | Suggestive |
POF1B | • Premature ovarian failure 2B | Not documented |
TGIF1 | • Holoprosencephaly 4 | Not documented |