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 |