|
| Gene | Location | Protein | Function | Reference Number |
|
| RAI1 | 17p11.2 | p.R1089X | Craniofacial and nervous system development | Thaker et al. [12] |
|
| NTRK2 | 9q21.33 | p.P204H
Tropomyosin receptor kinase B (TrkB), | Neuroendocrine /synaptic plasticity | Ize-Ludlow et al. [6] |
|
| NECDIN | 15q11–q13 | Necdin (p.V318A) | Hypothalamic/respiratory | De Pontual et al.[52] |
|
| ASCL1 | 12q23.2 | Human achaete-scute homolog 1 (hASH1) | Neuroendocrine | De Pontual et al. [52] |
|
| PHOX2B | 4p13, | Paired mesoderm homeobox protein 2B (NBPhox) | Respiratory/autonomic | Ize-Ludlow et al. [6]
De Pontual et al. [52] |
|
| BDNF | 11p14.1 | Brain-derived neurotrophic factor (BDNF) | Neuronal development/synaptic plasticity | Ize-Ludlow et al.[6]
Han et al. [53] |
|
| HCRT | 17q21.2 | Hypocretins | Sleep/wake regulation, energy balance, and the control of breathing | Barclay et al. [51] |
|
| HCRTR1 | 1p35.2 | Hypocretin receptor type 1 (HcrtR1), | Sleep/wake regulation, energy balance, and the control of breathing | Barclay et al. [51] |
|
| HCRTR2 | 6p12.1 | Hypocretin receptor type 2 (HcrtR2), | Sleep/wake regulation, energy balance, and the control of breathing | Barclay et al. [51] |
|
| HTR1A | 5q12.3 | 5-hydroxytryptamine (serotonin) receptor 1A | Appetite control, energy regulation, autonomic response to homeostatic stress | Rand et al. [54] |
|
| OTP | 5q14.1 | Orthopedia (Otp) homeodomain protein | Hypothalamic expression, with an important role in hypothalamic cell specification in the developing hypothalamus | Rand et al. [54] |
|
| ADCYAP1 | 18p11.32 | Adenylate Cyclase Activating Polypeptide 1 | Maintenance of normal energy homeostasis, respiratory chemosensitivity and preventing neonatal hypoventilation at reduced body temperatures | Rand et al. [54] |
|
