Table 2.
Summary of diagnostic rate
| Primary symptoms | All | ES or GSa | GS-SVb | GS-RNAseqc |
|---|---|---|---|---|
| All | 38% (38/100) | 23% (23/100) | 13% (8/60) | 15% (7/48) |
| Neurology | 38% (18/47) | 17% (9/47) | 19% (6/32) | 12% (3/25) |
| Musculoskeletal and orthopedics | 52% (11/21) | 33% (7/21) | 0% (0/13) | 33% (4/12) |
| Multiple congenital anomalies | 30% (3/10) | 20% (2/10) | 20% (1/5) | 0% (0/3) |
| Gastroenterology | 0% (0/7) | 0% (0/7) | 0% (0/5) | 0% (0/5) |
| Endocrinology | 50% (2/4) | 50% (2/4) | – | – |
| Dermatology | 67% (2/3) | 33% (1/3) | 100% (1/1) | – |
| Allergies and disorders of the immune system | 0% (0/2) | 0% (0/2) | 0% (0/1) | 0% (0/1) |
| Infectious diseases | 50% (1/2) | 50% (1/2) | 0% (0/1) | – |
| Cardiology and vascular conditions | 50% (1/2) | 50% (1/2) | 0% (0/1) | 0% (0/1) |
| Rheumatology | 0% (0/1) | 0% (0/1) | 0% (0/1) | 0% (0/1) |
| Pulmonology | 0% (0/1) | 0% (0/1) | – | – |
a
ES or GS: Cases diagnosed by exome or genome sequencing with single-nucleotide variant (SNV)/indel within coding exons and essential splice site (+/−2bp) that are predicted to be nonsynonymous or loss-of-function. One exome sequencing case that was diagnosed with a recurrent deep intronic pathogenic variant in COL6A1 is included in this category.
b
GS-SV: Cases diagnosed by structural variants affecting coding exons called from genome sequencing data. A case with mixed triploidy and a case with repeat expansion are included in this category.
c
GS-RNAseq: Cases diagnosed by integrating RNAseq data with genome sequencing data.