Deafness and congenital structural abnormalities

Gene: CHD7

Comment on list classification: Green gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.

Created: 14 Oct 2016, 11:20 a.m.

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.

Created: 12 Sep 2016, 2:17 p.m.

Red List (low evidence)

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

• PMID:10718198
• 15300250
• 16155193
• 16169932
• 16207732
• 16400610
• 16763960
• 17334995
• 17436250
• 17661815
• 17937444
• 18074359
• 18472328
• 18834967
• 18978652
• 19279158
• 20016488
• 20130577
• 20453063
• 20591827
• 21532573
• 21554267
• 23883829
• 24728844
• 25119037

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome

Variants in this GENE are reported as part of current diagnostic practice