Bilateral microtia
Gene: CHD7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#214800:CHARGE syndrome [Postnatal growth retardation; Microcephaly; Square face; Malar flattening; Micrognathia; Facial asymmetry; Small ears; Lop ears; Cup-shaped ears; Deafness (sensorineural or mixed sensorineural and conductive); Mondini defect; Hypoplastic semicircular canals; Colobomas (iris, choroid, retina, disc, and optic nerve); Anophthalmia; Microphthalmia; Ptosis; Hypertelorism; Downslanting palpebral fissures; Posterior choanal atresia (membranous and/or bony); Anosmia; Cleft palate; Cleft lip; Tetralogy of Fallot; Atrial septal defect; Ventricular septal defect; Double-outlet right ventricle; Patent ductus arteriosus; Pulmonary valve stenosis; Rib anomalies; Umbilical hernia; Omphalocele; Tracheoesophageal fistula; Esophageal atresia; Duodenal atresia; Anal atresia; Anal stenosis; Poor feeding; Chewing/swallowing difficulties; Delayed pubertal development; Micropenis; Hypoplastic labia; Cryptorchidism; Horseshoe kidney; Hydronephrosis; Monodactyly (some); Ulnar hypoplasia (some); Tibial aplasia (some); Bifid femur (some); Radial aplasia (reported in 1 patient); Mental retardation, variable severity; Intellectual function may be high in milder cases; Balance disturbances; Facial palsy; Dysphagia; Cranial nerve anomalies; Autistic features; Growth hormone deficiency; Parathyroid hypoplasia; Gonadotropin deficiency; Hypothyroidism; Thymic hypoplasia or aplasia; T cell defect, mild to severe; Lymphopenia; Humoral defect (in some); Hypocalcemia]; #612370:Hypogonadotropic hypogonadism 5 with or without anosmia [; <omim version=1.0>; <clinicalSynopsisList>]
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Publications for CHD7 were set to 15300250
Phenotypes for CHD7 were set to Bilateral Microtia; 214800
Mode of inheritance for CHD7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
CHD7 was added to Bilateral Microtiapanel. Sources: Expert list