Table 2 Subject ID 3: OMIM Disease Causing genes included within the 18q12.3q21.1 deleted region
From: Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Gene | Position | Disease | MIM number | Inheritance |
|---|---|---|---|---|
MLPH | 2q37.3 | GRISCELLI SYNDROME | 609,227 | Autosomal recessive |
PER2 | 2q37.3 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 | 604,348 | Autosomal dominant |
TRAF3IP1 | 2q37.3 | SENIOR-LOKEN SYNDROME 9 | 616,629 | Autosomal recessive |
PDE10A | 6q27 | DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET | 616,921 | Autosomal recessive |
STRIATAL DEGENERATION (missense variants) | 616,922 | Autosomal dominant | ||
TBXT | 6q27 | SACRAL AGENESIS WITH VERTEBRAL ANOMALIES | 615,709 | Autosomal recessive |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | 182,940 | Autosomal dominant | ||
MPC1 | 6q27 | MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | 614,741 | Autosomal recessive |
SETBP1 | 18q12.3 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29 | 616,078 | Autosomal dominant |
SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (missense variants) | 269,150 | Autosomal dominant | ||
SLC14A1 | 18q12.3 | BLOOD GROUP, KIDD SYSTEM | 111,000 | Â |
EPG5 | 18q12.3 | VICI SYNDROME | 242,840 | Autosomal recessive |
ATP5F1A | 18q21.1 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 | 616,045 | Autosomal recessive |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B | 615,228 | Autosomal recessive | ||
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY (missense variants) | 620,358 | Autosomal dominant | ||
LOXHD1 | 18q21.1 | DEAFNESS | 613,079 | Autosomal recessive |
IER3IP1 | 18q21.1 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1 | 614,231 | Autosomal recessive |
SMAD2 | 18q21.1 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY | 619,657 | Autosomal dominant |
LOEYS-DIETZ SYNDROME 6 | 619,656 | Autosomal dominant |