Research Article
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome
Table 1
Genes curated for the NGS-panel.
| Gene | Position | Ref seq. no. | OMIM | Association |
| HIRA | 22q11.21 | NP_003316.3 | 600237 | Cardiac anomalies | CRKL | 22q11.21 | NP_005198.1 | 602007 | Cardiac anomalies | MAPK1 | 22q11.22 | NM_138957.3 | 176948 | Cardiac anomalies | HDAC1 | 1p35.2 | NP_004955.2 | 601241 | Cardiac anomalies | ZFPM2 | 8q23 | NP_036214.2 | 603693 | Cardiac anomalies | JAM3 | 11q25 | NP_116190.3 | 606871 | Cardiac anomalies | TANGO2 | 22q11.21 | NP_690870.3 | 616830 | Immunopsychiatric disorders | ZDHHC8 | 22q11.21 | NP_037505.1 | 608784 | Immunopsychiatric disorders | PI4KA | 22q11.21 | NP_477352.3 | 600286 | Immunopsychiatric disorders |
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