Table 1 Summary of autism pathogenic and candidate variants
From: Using the linear references from the pangenome to discover missing autism variants
No. | Family ID | Sex | Gene(s) affected | Region | Variant type | Variant class | SRS status (prior study, caller or read support) |
|---|---|---|---|---|---|---|---|
1 | 12237 | F | SYNGAP1** | CDS | De novo stopgain | Pathogenic | Missing, yes, yes |
2 | HZRNM001 | F | TBL1XR1** | CDS | De novo missense | Pathogenic | Yes, yes, yes |
3 | HYZ207 | F | MECP2** | CDS | De novo 874 bp DEL | Pathogenic | Missing, yes, yes |
4 | 14133 | F | DDX3X** | Promoter | De novo substitution | Likely pathogenic | Yes, yes, yes |
5 | 12456 | F | POGZ** | Promoter | De novo substitution | Likely pathogenic | Yes, yes, yes |
6 | 11201 | M | CNTN3* | TF binding | De novo 71 bp INS | Likely pathogenic | Missing, no, yes |
7 | 12651 | M | LRPAP1 | 3’UTR | Biallelic 110 bp DEL | Likely pathogenic | Missing, no, no |
8 | 11611 | F | CLN8* | 3’UTR | Biallelic 135 bp DEL | Likely pathogenic | Missing, no, no |
9 | 11918 | F | TBC1D5* | TF binding | Biallelic 332 bp INS | Likely pathogenic | Missing, no, no |
10 | 12826 | F | PREX1* | Enhancer | Biallelic 56 bp DEL | Likely pathogenic | Missing, no, no |
11 | 13414 | M | ARHGEF10* | Promoter/Enhancer | Biallelic 193 bp DEL | Likely pathogenic | Missing, no, yes |
12 | 14350 | F | LMF2, NCAPH2* | Promoter | Biallelic 90 bp DEL | Likely pathogenic | Missing, no, no |
13 | 14455 | F | CPT1C | Enhancer | De novo 73 bp INS | Uncertain | Missing, no, no |
