Genomics Precision Diagnostic > Prenatal > Omphalocele and Gastroschisis Precision Panel

Omphalocele and Gastroschisis Precision Pane – 73 genes

Omphalocele, also known as exomphalos, is a midline abdominal wall defect at the base of the umbilical cord where herniation of abdominal contents takes place. The herniated organs are covered by the parietal peritoneum.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Omphalocele, also known as exomphalos, is a midline abdominal wall defect at the base of the umbilical cord where herniation of abdominal contents takes place. The herniated organs are covered by the parietal peritoneum. The cause of omphalocele postulated to be a failure of the bowel to return into the abdomen by 10-12 weeks. Omphaloceles are associated with other anomalies in more than 70% of the cases, generally chromosomal, and the severity is dictated by the anomalies that are present. The main difficulty of this condition is the exclusion of associated conditions, not all diagnosed prenatally. Gastroschisis represents a herniation of abdominal contents through a paramedian full-thickness abdominal fusion defect. The abdominal herniation, in contrast with omphalocele, is usually to the right of the umbilical cord. It usually contains small bowel and has no surrounding membrane. Challenges in management of gastroschisis are related to the prevention of late intrauterine death, and the prediction and treatment of complex forms.
The Igenomix Omphalocele and Gastroschisis Gene Panel can be used as a screening tool for underlying genetic alterations associated to these conditions. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Omphalocele and Gastroschisis Gene Panel is indicated for those patients with a clinical suspicion of omphalocele and/or gastroschisis which manifest as:
- Herniation of intestines through abdominal wall
- Polyhydramnios in utero
- Elevated levels of maternal serum a-fetoprotein (MSAFP)

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team for caesarean delivery, surgical repair and management of underlying associated conditions to prevent complications and ultimately lead to a better prognosis of the disease.
Risk assessment of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACTG2*	Familial Visceral Myopathy, Megacystis–Microcolon-Intestinal Hypoperistalsis Syndrome	AD	99.91	23 of 23
*ALG9*	Congenital Disorder Of Glycosylation Type II, Polycystic Kidney Disease Potter Type I With Microbrachycephaly, Hypertelorism And Brachymelia	AR	99.99	6 of 6
*AMER1*	Osteopathia Striata With Cranial Sclerosis	X,XD,G	99.45	NA of NA
*BHLHA9*	Camptosynpolydactyly, Gollop-Wolfgang Complex, Mesoaxial Synostotic Syndactyly With Phalangeal Reduction, Tibial Aplasia-Ectrodactyly Syndrome	AR	43.88	6 of 7
*CD96*	C Syndrome	AD	100	4 of 4
*CDKN1C*	Beckwith-Wiedemann Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita And Genital Anomalies, Image Syndrome	AD	73.58	55 of 76
*CEP120*	Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Joubert Syndrome	AR	99.8	9 of 9
*CHD7*	Charge Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Omenn Syndrome	AD	96.25	823 of 896
*CHUK*	Cocoon Syndrome	AR	100	5 of 5
*COL11A1*	Autosomal Dominant Deafness, Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome Type II, Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	AD,AR	100	104 of 106
*COL11A2*	Autosomal Dominant Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal Dysplasia, Stickler Syndrome Type III	AD,AR	99.98	58 of 58
*DACT1*	Townes-Brocks Syndrome, Craniorachischisis	AD	98.12	8 of 9
*DHCR7*	Smith-Lemli–Opitz Syndrome	AR	100	217 of 217
*DVL3*	Autosomal Dominant Robinow Syndrome	AD	100	16 of 16
*DYNC2H1*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type	AR,MU,D	99.78	214 of 221
*DYNC2I1*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type	AR	97.76	14 of 14
*DYNC2I2*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type	AR	99.54	23 of 23
*FGFR1*	Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Kallmann Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Trigonocephaly, Lobar Holoprosencephaly, Microform Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Oligodontia, Septo-Optic Dysplasia Spectrum	AD	100	279 of 280
*FLNA*	X-Linked Cardiac Valvular Dysplasia, Frontometaphyseal Dysplasia, Periventricular Heterotopia, Chronic Neuronal Intestinal Pseudoobstruction, Melnick-Needles Syndrome, Otopalatodigital Syndrome, Terminal Osseous Dysplasia, Congenital Short Bowel Syndrome, X-linked Ehlers-Danlos Syndrome	X,XR,XD,G	100	NA of NA
*FLNB*	Atelosteogenesis, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome	AD,AR	100	124 of 124
*FOXF1*	Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins, Congenital Alveolar Capillary Dysplasia	AD	95.93	74 of 96
*FRAS1*	Fraser Syndrome	AR	98.73	57 of 58
*FREM1*	Bifid Nose With Or Without Anorectal And Renal Anomalies, Manitoba Oculotrichoanal Syndrome,Trigonocephaly, Bnar Syndrome, Isolated Trigonocephaly, Oculotrichoanal Syndrome	AD,AR	97.32	27 of 30
*FREM2*	Unilateral Or Bilateral Cryptophthalmos, Fraser Syndrome	AR	99.92	31 of 33
*GPC3*	Simpson-Golabi–Behmel Syndrome, Wilms Tumor, Nephroblastoma	AD,X,XR,G	99.84	NA of NA
*GPC4*	Keipert Syndrome, Simpson-Golabi–Behmel Syndrome	AD,X,XR,G	98.43	NA of NA
*GRIP1*	Fraser Syndrome	AR	100	17 of 17
*H19-ICR*	Beckwith-Wiedemann Syndrome, Multiple Tumor-Associated Chromosome Region, Silver-Russell Syndrome	AD	na	na
*HIC1*	Miller-Dieker Syndrome		97.7	NA of NA
*HOXD13*	Brachydactyly-Syndactyly Syndrome, Vacterl/Vater Association	AD	90.98	21 of 31
*HYLS1*	Hydrolethalus Syndrome, Joubert Syndrome	AR	100	2 of 2
*IFT80*	Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	AR	99.96	16 of 16
*IFT81*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	98.97	7 of 9
*IGF2*	Beckwith-Wiedemann Syndrome, Silver-Russell Syndrome, Wilms Tumor, Isolated Hemihyperplasia	AD,X,XR,G	100	9 of 9
*ISL1*	Bladder Exstrophy		100	8 of 10
*KCNQ1*	Familial Atrial Fibrillation, Beckwith-Wiedemann Syndrome, Jervell And Lange-Nielsen Syndrome, Long QT Syndrome, Short QT Syndrome, Romano-Ward Syndrome	AD,AR	93.23	600 of 624
*KCNQ1OT1*	Beckwith-Wiedemann Syndrome, Isolated Hemihyperplasia	AD	na	na
*LBR*	Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia, Pelger-Huet Anomaly, Reynolds Syndrome, Greenberg Dysplasia	AD,AR	99.98	34 of 34
*LMOD1*	Megacystis–Microcolon-Intestinal Hypoperistalsis Syndrome		99.62	1 of 1
*LONP1*	Codas Syndrome	AR	99.84	21 of 21
*LRP2*	Donnai-Barrow Syndrome	AR	99.99	58 of 58
*MASP1*	3mc Syndrome	AR	100	29 of 30
*MBTPS2*	Ichthyosis Follicularis Atrichia And Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta Type XIX, Palmoplantar Keratoderma, Bresek Syndrome, Ichthyosis Follicularis-Alopecia-photophobia Syndrome Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	X,XR,G	100	NA of NA
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*MMP14*	Winchester Syndrome, Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum		99.91	6 of 6
*MMP2*	Multicentric Osteolysis Nodulosis And Arthropathy Spectrum	AR	100	24 of 24
*MTHFR*	Homocystinuria Due To Deficiency Of N(5,10)-Methylene Tetrahydrofolate Reductase Activity, Neural Tube Defects, Thrombophilia, Isolated Anencephaly, Isolated Exencephaly	AD,AR	100	122 of 122
*MYH11*	Familial Thoracic Aortic Aneurysm, Familial Aortic Dissection, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	AD	100	67 of 67
*MYLK*	Familial Thoracic Aortic Aneurysm, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	AD	99.95	50 of 50
*NEK9*	Arthrogryposis, Perthes Disease And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome, Nevus Comedonicus Syndrome	AR	99.98	4 of 4
*NFIX*	Marshall-Smith Syndrome, Sotos Syndrome, 19p13.3 Microduplication Syndrome, Malan Overgrowth Syndrome, Marshall-Smith Syndrome	AD	94.42	75 of 81
*NXN*	Autosomal Recessive Robinow Syndrome	AR	98.03	2 of 4
*PAFAH1B1*	Lissencephaly, 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome	AD	99.95	90 of 92
*PIGN*	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Fryns Syndrome	AR	93.97	36 of 39
*PIGY*	Hyperphosphatasia With Mental Retardation Syndrome, Hyperphosphatasia-Intellectual Disability Syndrome	AR	100	1 of 2
*PORCN*	Focal Dermal Hypoplasia	X,XD,G	100	NA of NA
*PPP1R12A*	Genitourinary And/Or/Brain Malformation Syndrome	AD	99.48	1 of 1
*PPP2R3C*	Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy, Spermatogenic Failure	AD,AR	99.85	3 of 3
*PTCH1*	Basal Cell Nevus Syndrome, Holoprosencephaly, Alobar Holoprosencephaly, Gorlin Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Midline Interhemispheric Variant Of Holoprosencephaly, Monosomy 9q22.3, Semilobar Holoprosencephaly, Septopreoptic Holoprosencephaly	AD	98.89	498 of 502
*RAB23*	Carpenter Syndrome	AR	100	15 of 15
*SEMA3E*	Charge Syndrome, Hypogonadotropic Hypogonadism Without Anosmia	AD,AR	99.81	6 of 7
*SF3B4*	Acrofacial Dysostosis, Nager Syndrome	AD	94.86	33 of 40
*SPECC1L*	Facial Clefting, Oblique, Hypertelorism, Opitz Gbbb Syndrome, Autosomal Dominant	AD	99.66	14 of 14
*THRA*	Congenital Nongoitrous Hypothyroidism	AD	100	24 of 24
*TP63*	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate, Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Limb-Mammary Syndrome, Rapp-Hodgkin Syndrome, Split-Hand/Foot Malformation, Adult Syndrome, Palate Syndrome, Bladder Exstrophy	AD	99.98	144 of 144
*TSHB*	Congenital Nongoitrous Hypothyroidism, Isolated Thyroid-stimulating Hormone Deficiency	AR	100	12 of 13
*TTC7A*	Gastrointestinal Defects And Immunodeficiency Syndrome, Combined Immunodeficiency- Enteropathy Spectrum, Multiple Intestinal Atresia	AR	100	44 of 45
*TWIST2*	Ablepharon-Macrostomia Syndrome, Barber-Say Syndrome, Focal Facial Dermal Dysplasia	AD,AR	99.82	9 of 9
*VANGL2*	Neural Tube Defects, Isolated Anencephaly, Isolated Exencephaly	AD	99.98	12 of 12
*WDR35*	Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Cranioectodermal Dysplasia, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	AR	100	31 of 33
*WNT3*	Tetraamelia-Multiple Malformations Syndrome	AR	100	2 of 2
*YWHAE*	17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome		98.99	0 of 1
*ZIC3*	X-linked Visceral Heterotaxy, Vacterl Association With Hydrocephalus	X,XR,G	99.98	NA of NA

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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