Table 2 OMIM Morbid annotated genes with gene coordinates, mode of inheritance (AD: autosomal dominant, AR: autosomal recessive, Mi: mitochondrial), and associated clinical phenotypes for arr[GRCh37] 22q13.31q13.33(46722256_51169045) × 1
Gene | Disease, # OMIM entry | Gene coordinates Chr 22 (GRCh38/hg38) | Mode of inheritance | Phenotype features |
|---|---|---|---|---|
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase | Transient infantile liver failure (LFIT) #613,070 | 46,335,714–46,357,340 | AR | Acute liver failure, hepatomegaly, poor feeding, pale-gray skin, lactic acidosis, laboratory abnormalities, onset usually at 2 to 6 months of age, liver size and functions return to normal after 3 to 4 months but may have persistent hypotonia |
Aminoglycoside-induced deafness #580,000 | Â | Mi | Aminoglycoside-induced hearing loss | |
CELSR1 Cadherin EGF LAG seven-pass G-type receptor 1 | Lymphatic malformation-9 (LMPHM9) #604,523 | 46,361,174–46,537,620 | AD | Lower limbs lymphedema, lymphangiectasia, lymph backflow, onset in first decade |
ALG12 ALG12 alpha-1,6-mannosyltransferase | Congenital disorder of glycosylation type Ig (CDG1G) #607,143 | 49,859,311–49,918,438 | AR | Low birth weight, failure to thrive, progressive microcephaly, facial dysmorphism, Patent foramen ovale and ductus arteriosus, male cryptorchidism, delayed ossification, rhizomelic limb shortening, feet malformation, psychomotor retardation, frequent respiratory infections |
MLC1 Modulator of VRAC current 1 | Megalencephalic leukoencephalo-pathy with subcortical cysts-1 (MLC1) #604,004 | 50,059,391–50,085,875 | AR | Macrocephaly, ataxia, seizures, spasticity, delay in motor development, mild mental retardation, cerebral MRI findings, onset in infancy |
MOV10L1 Mov10-like 1 | Spermatogenic failure-73 (SPGF73) #619,878 | 50,090,006–50,161,687 | AR | Male infertility |
TUBGCP6 Tubulin-gamma complex-associated protein 6 | Microcephaly and chorioretinopathy-1 (MCCRP1) #251,270 | 50,217,694–50,245,023 | AR | Short stature, microcephaly, facial dysmorphism, delayed psychomotor development, mental retardation, cerebral MRI findings |
SCO2 SCO2 cytochrome c oxidase assembly protein | Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) #604,377 | 50,523,568–50,526,442 | AR | Facial dysmorphism, hypertrophic cardiomyopathy, respiratory insufficiency, feeding difficulties, severe hypotonia, myopathy, global developmental delay, dystonia, decreased/absent reflexes, cerebral MRI findings, sensorimotor axonal or demyelinating polyneuropathy, lactic acidosis, laboratory abnormalities, onset in infancy |
Myopia-6 (MYP6) #608,908 | Â | AD | High-grade myopia | |
TYMP Thymidine phosphorylase | Mitochondrial DNA depletion syndrome-1 (MTDPS1) #603,041 | 50,525,752–50,530,085 | AR | Progressive weight loss, sensorineural hearing loss, ptosis, gastrointestinal problems, myopathy, leukoencephalopathy, sensorimotor axonal/demyelinating progressive peripheral neuropathy, lactic acidosis, laboratory abnormalities, onset in second to fifth decade |
CHKB Choline kinase, beta | Megaconial-type congenital muscular dystrophy (MDCMC) #602,541 | 50,578,963–50,582,849 | AR | Microcephaly, dilated cardiomyopathy, ichthyosis, Muscle weakness/dystrophy, mental retardation, delayed motor development, poor speech development, onset at birth |
SBF1 SET-binding factor 1 | Charcot-Marie-Tooth disease type 4B3 (CMT4B3) #615,284 | 50,445,000–50,475,035 | AR | Scoliosis, progressive peripheral neuropathy causing distal limb muscle atrophy/weakness, gait abnormalities, distal sensory impairment, areflexia, onset between 5 and 20 year |
ARSA Arylsulfatase A | Metachromatic leukodystrophy (MLD) #250,100 | 50,622,754–50,628,152 | AR | Optic atrophy, urinary incontinence, mental deterioration, loss of speech, hypotonia, muscle weakness, seizures, ataxia, dystonia, spastic tetraplegia, progressive polyneuropathy, psychiatric manifestation |
SHANK3 SH3 and multiple ankyrin repeat domains 3 | Phelan-McDermid syndrome (PHMDS) #606,232 | 50,672,823–50,733,212 | AD | Tall stature, dolicho-/macrocephaly, facial dysmorphism, neonatal feeding difficulties and hypotonia, global/delayed developmental delay, Absent or delayed speech development, moderate to severe mental retardation, seizures, increased tolerance to pain, abnormal reflexes, autistic features, aggressive behavior |
Schizophrenia-15 (SCZD15) #613,950 | Â | AD | Schizophrenia, borderline to moderate mental retardation, hyperactivity |