Skip to main content

Advertisement

Table 1 Molecular diagnoses in 74 cases are represented as three major categories: known genes, novel genes and candidate genes

From: Lessons learned from additional research analyses of unsolved clinical exome cases

Inheritance Known genes Novel genes Candidate genes
De novo CACNA1A, DDX3X(X2) a, NALCN(X2), NR2F1 a, ZBTB20 ATAD3A, DHX30, EBF3, EMC1, PURA a CDK20 + HIVEP1, DNAH7, GSPT2 GUCY2C, MICALL2 + SLC30A7, MPP4, SYN3, SYTL2
Autosomal/X-linked Recessive ABCA4, DDX3X, FBXL4 a, NAA10, SLC13A5 a (X2), TRAPPC11, ZNF335 a GNB5, MIPEP, TANGO2 a ACOT1 a, NRXN3, USP19
Other   NA NA
UPD SLC1A4 a  
Mosaic PIK3CD
Dual molecular diagnosis PMPCA + KCND3 a POLRIC + SCNIB a
  1. aCases independently solved by the clinical exome laboratory re-analysis
  2. Three major categories of identified genes include 13 candidate genes identified in 11 families and 26 known or novel genes in 27 families. Note that some families had more than one molecular diagnosis (indicated by PMPCA + KCND3, POLR1C + SCN1B, CDK20 + HIVEP1, MICALL2 + SLC30A7) and some genes were identified in more than one family (indicated by “(X2)” in the table)
  3. NA non-applicable