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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