Table 1 1q22 microdeletions/duplications including ASH1L from public databases and literature
Database/ Literature | Index ID | Variant | Size | Inheritance | Phenotype(s) | Clinic Significance |
|---|---|---|---|---|---|---|
This report | / | [GRCh37] 1q22 (155016052 _155952375)×1 | 936.3 Kb | Paternal | Intellectual disability, behavioral problems, forehead, flat face, flat nasal bridge, short upturned nose, thin lips, small ears. | Pathogenic |
Faundes et al.* | / | [GRCh37] 1q22 (155271366 _155804269)×1 | 532.9 Kb | De novo | Intellectual disability, behavioral problems, cryptorchidism and blocked nasolacrimal duct, microcephaly, | / |
Decipher | 249,031 | [GRCh37] 1q22 (154292095 −155569326)×1 | 1.28 Mb | De novo | Delayed speech and language development, hypertelorism, intellectual disability, long face, low-set ears | Unknown |
Decipher | 255,240 | [GRCh37] 1q22 (155192986 _156108069)×1 | 915.08 Kb | Unknown | Broad nasal tip, delayed speech and language development, dental malocclusion, intellectual disability, low-set ears, malar flattening, narrow palate, nasal speech, posteriorly rotated ears | Unknown |
Decipher | 359,103 | [GRCh37] 1q22 (154687479 _156014014)×1 | 1.33 Mb | De novo | Abnormality of the nervous system, autism, scoliosis | Likely pathogenic |
DGV | esv33869 | [GRCh37] 1q22 (155223283 _155917961)×1 | 694.6Kb | / | / | / |
DGV | dgv3n68 | [GRCh37] 1q22 (155094978 _155313409)×1 | 218.4 Kb | / | / | / |
ClinVar | VCV000659609.1 | [GRCh37] 1q22 (155294636 _155452240)×1 | 157.6Kb | / | / | Pathogenic |
Decipher | 251,442 | [GRCh37] 1q22 (155264908 _156495512)×3 | 1.23 Mb | Inherited | Cryptorchidism, delayed speech and language development, intellectual disability, strabismus | Unknown |
ClinVar | VCV000253835.1 | [GRCh37] 1q22 (155412745 _155755215)×3 | 342.47 kb | / | Attention deficit hyperactivity disorder | Uncertain |