Genotypes and phenotypes of this cohort
| Case | cDNA* | Protein | Variant type | ACMG criteria | ACMG classification | Inheritance | Country | Sex | Age, years† | Sleep | Motor | NDD |
| 1a | c.1191dupA | p.Glu398Argfs‡31 | Loss of function (frameshift) | PVS1, PM2, PP1 | Pathogenic | Maternal | Aus | M | 6–8 | – | Fine and gross | – |
| 1b | Maternal | Aus | F | 36–38 | – | – | – | |||||
| 1c | Maternal | Aus | F | 30–32 | + | Fine and gross | ASD, ADHD | |||||
| 1d | NA | Aus | F | 60–62 | + | – | – | |||||
| 2 | (114 254 407–114 308 861)×3 | Loss of function (intragenic duplication) | De novo | Aus | M | 6–8 | + | – | ASD, impulsivity, hyperactive, borderline IQ | |||
| 3a | (114 036 269–114 347 379)×1 | Loss of function (intragenic deletion) | Paternal | Aus | M | 3–5 | – | Fine | Borderline IQ, sensory and attention difficulties | |||
| 3b | De novo | Aus | M | 39–41 | – | Fine | – | |||||
| 4a‡ | c.982C>T | p.Arg328‡ | Loss of function (non-sense) | PVS1, PS2, PM2, PP1 | Pathogenic | Maternal | Aus | M | 18–20 | + | Fine | Tourette’s syndrome, mild ID, ASD |
| 4b‡ | Maternal | Aus | F | 18–20 | + | Fine | Mild ID, ASD | |||||
| 4c | Maternal | Aus | F | 15–17 | + | Fine | Mild ID, ASD | |||||
| 5‡ | c.1168_1169delCA | p.Gln415Valfs‡7 | Loss of function (frameshift) | PVS1, PS2, PM2 | Pathogenic | De novo | Aus | M | 6–8 | – | Mild tremor | Borderline IQ |
| 6 | c.1666C>T | p.Leu556Phe | Missense | PS2, PM1, PM2, PP3, PP4 | Pathogenic | De novo | UK | F | 12–14 | + | Fine and gross | – |
| 7a‡ | (114 296 590–114 310 602)×1 | Loss of function (intragenic deletion) | De novo | Ger | F – twin | 15–17 | – | Gross | – | |||
| 7b‡ | De novo | Ger | F – twin | 15–17 | – | Gross | – | |||||
| 8a‡ | c.982C>T | p.Arg328‡ | Loss of function (nonsense) | PVS1, PS2, PM2, PP1 | Pathogenic | NA | Ger | F | 36–38 | – | – | NA |
| 8b‡ | Maternal | Ger | M | 15–17 | – | – | – | |||||
| 9‡ | c.1607G>C | p.Arg536Pro | Missense | PS1, PS2, PM1, PM2, PP3, PP4 | Pathogenic | Paternal (? mosaic Fa.) | Ger | F | 18–20 | NA | Gross | Autistic features, mild ID |
| 10‡ | c.1432C>T | p.Arg478‡ | Loss of function (nonsense) | PVS1, PS2, PM2 | Pathogenic | De novo | Ger | F | 9–11 | NA | Broad-based gait | – |
| 11a‡ | c.1514C>T | p.Pro505Leu | Missense | PS1, PS2, PM1, PM2, PP3, PP4 | Pathogenic | NA | Ger | M | 39–41 | NA | NA | – |
| 11b‡ | Paternal | Ger | M | 6–8 | NA | NA | Borderline IQ | |||||
| 12a | c.1385C>G | p.Ser462‡ | Loss of function (non-sense) | PVS1, PS2, PM2, PP1 | Pathogenic | Maternal | NL | M | 3–5 | – | Fine and gross | SPD |
| 12b | NA | NL | F | 33–35 | – | – | DCD, ASD | |||||
| 13 | c.1513C>A | p.Pro505Thr | Missense | PS1, PS2, PM1, PM2, PP3, PP4 | Pathogenic | De novo | NL | M | 0–2 | – | Fine and gross | – |
| 14 | c.1658 G>A | p.Arg553His | Missense | PVS1, PS2, PM2 | Pathogenic | De novo | USA | M | 3–5 | + | Fine and gross | Hyperactive, attention deficit, restricted interests and behaviour |
| 15 | c.1428del | p.Lys417Asnfs‡7 | Loss of function (frameshift) | PVS1, PS2, PM2 | Pathogenic | De novo | USA | M | 3–5 | – | – | Sensory-seeking behaviours |
| 16a | (113 844 506–114 106 056)×1 | Loss of function (intragenic deletion) | De novo | USA | F | 42–44 | + | Gross | – | |||
| 16b | Maternal | USA | F | 9–11 | + | Gross | Dyslexia, ASD, borderline IQ | |||||
| 17 | c.1A>G | p.M1? | Translational start-site variant | PM1, PM2, PM4, PP3, PP4 | Likely pathogenic | NA | USA | M | 0–2 | – | Fine and gross | – |
*NM_014491, all deletions and the microduplication are arr[hg19]7q31.1.
†Ages in 2-year age ranges.
‡Previously published.
ADHD, attention-deficit hyperactive disorder; ASD, autism spectrum disorder; Aus, Australia; DCD, developmental coordination disorder; F, female; Ger, Germany; M, male; NA, not assessed; NDD, neurodevelopmental disorder; NL, Netherlands; OCD, obsessive–compulsive disorder; SPD, sensory processing disorder; UK, United Kingdom; USA, United States of America.