Table 1.
Summary of pathogenic and likely pathogenic variants in syndromic genes
| Samples | Sex | cDNA | Protein | Genotype | Gene | Gene category | Type | Origin | Classification | ACMG classification |
|---|---|---|---|---|---|---|---|---|---|---|
| AU076603 | F | c.1229delC | p.Pro410fs | het | IQSEC2 | Group 1 | fs del | Unknown | LP | P |
| AU065903 | M | c.766C>T | p.Arg256* | het | MEF2C | Group 1 | Nonsense | De novo | P | P |
| AU049703 | M | c.403–1G>T | – | het | MEF2C | Group 1 | Splicing | De novo | P | P |
| AU012204 | M | c.973C>T | p.Arg325* | het | MBD5 | Group 1 | Nonsense | De novo | P | P |
| AU060803 | M | c.404dupG | p.Gly136fs | het | PTEN | Group 1 | fs ins | Paternal | LP | P |
| AU037503 | M | c.460dupC | p.Arg154fs | het | PTEN | Group 1 | fs ins | Maternal | LP | P |
| AU095803 | M | c.2854C>T | p.Arg952* | hom | CDKL5 | Group 1 | Nonsense | Maternal | LP | Likely benign |
| AU048503 | M | c.803+1G>A | – | het | HEPACAM | Group 2 | Splicing | Paternal | LP | VUS |
| AU065403 | M | c.1742dupT | p.Leu581fs | het | NF1 | Group 1 | fs ins | Maternal | LP | VUS |
| AU065503 | M | c.1742dupT | p.Leu581fs | het | NF1 | Group 1 | fs ins | Maternal | LP | VUS |
| AU099703 | M | c.1742dupT | p.Leu581fs | het | NF1 | Group 1 | fs ins | Maternal | LP | VUS |
| AU052603 | M | c.1015delG | p.Val339fs | het | RNF135 | Group 1 | fs del | Paternal | P | VUS |
| AU095503 | M | c.1015delG | p.Val339fs | het | RNF135 | Group 1 | fs del | Paternal | P | VUS |
| AU056603 | F | c.3424_3425del | p.Leu1142fs | het | SHANK3 | Group 1 | fs del | De novo | P | P |
| AU013503 | F | c.3679dupG | p.Ala1227fs | het | SHANK3 | Group 1 | fs ins | Unknown | P | P |
| AU035703 | F | c.3679dupG | p.Ala1227fs | het | SHANK3 | Group 1 | fs ins | De novo | P | P |
| AU039303 | M | c.4753_4763del | p.Lys1585fs | het | TSC2 | Group 1 | fs del | De novo | P | P |
| AU018703 | M | c.199G>A | p.Asp67Asn | het | MAP2K1 | Group 1 | Missense | Unknown | P | P |
| AU017403 | M | c.1081C>G | p.Leu361Val | het | TSC2 | Group 1 | Missense | Maternal | LP | LP |
Note. RefSeq sequences used: IQSEC2 (NM_001111125.2), MEF2C (NM_002397.4), MBD5 (NM_018328.4), PTEN (NM_001304717.2), CDKL5 (NM_003159.2), HEPACAM (NM_152722.4), NF1 (NM_001128147.2), RNF135 (NM_032322.3), SHANK3 (NM_033517.1), TSC2 (NM_000548.4), MAP2K1 (NM_002755.3).
F: female; M: male; cDNA: complementary DNA; fs del: frameshift deletion, fs ins: frameshift insertion, LP: likely pathogenic; P: pathogenic; VUS: variants of uncertain significance.