Table 2 Additional RCL1 copy number losses: cases from academic medical centers.
From: RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
Case # | Inheritance | Start (hg19) | End (hg19) | Size | Copy number change | Age | Phenotype |
|---|---|---|---|---|---|---|---|
Toronto SickKids* | |||||||
1 | Paternal | 4,767,677 | 4,869,801 | 102 kb | Loss | Not available | Autism spectrum disorder (ASD), inherited from father |
2 | Unknown, seen in sibling (unknown phenotype) | 4,542,988 | 4,999,498 | 457 kb | Loss | Not available | Developmental delay, 2q13 duplication |
3 | Unknown | 4,504,448 | 5,510,644 | 1006 kb | Loss | Not available | Schizophrenia |
4 | Unknown | 203,861 | 6,648,114 | 6,444,253 | Loss | Not available | Developmental delay |
5 | Unknown | 4,611,869 | 6,144,065 | 1,532,196 | Loss | Not available | Developmental delay, ASD |
Baylor genetics | |||||||
6 | Paternal | 4,744,770 | 5,037,925 | 293 kb | Loss | 19 years | ASD, seizure disorder |
7 | Paternal | 4,428,574 | 4,979,623 | 551 kb | Loss | 6 years | Moderate developmental delay, intellectual disability, dysmorphic features |
8 | Unknown | 4,428,574 | 4,979,623 | 551 kb | Loss | 0 months | Congenital heart defect, small deletion of PABPC4L |
9 | Unknown | 4,781,753 | 5,015,889 | 234 kb | Loss | 4 months | Dysmorphic features, cleft lip and palate |
