Monogenic hearing loss

Gene: CHD7

Inheritance:

Created: 7 Feb 2016, 5:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#214800:CHARGE syndrome[Postnatal growth retardation; Microcephaly; Square faceMalar flatteningMicrognathiaFacial asymmetry; Small earsLop earsCup-shaped earsDeafness (sensorineural or mixed sensorineural and conductive)Mondini defectHypoplastic semicircular canals; Colobomas (iris, choroid, retina, disc, and optic nerve)AnophthalmiaMicrophthalmiaPtosisHypertelorismDownslanting palpebral fissures; Posterior choanal atresia (membranous and/or bony)Anosmia; Cleft palateCleft lip; Tetralogy of FallotAtrial septal defectVentricular septal defectDouble-outlet right ventriclePatent ductus arteriosusPulmonary valve stenosis; Rib anomalies; Umbilical herniaOmphalocele; Tracheoesophageal fistulaEsophageal atresiaDuodenal atresiaAnal atresiaAnal stenosisPoor feedingChewing/swallowing difficulties; Delayed pubertal development; Micropenis; Hypoplastic labia; Cryptorchidism; Horseshoe kidneyHydronephrosis; Monodactyly (some)Ulnar hypoplasia (some)Tibial aplasia (some)Bifid femur (some)Radial aplasia (reported in 1 patient); Mental retardation, variable severityIntellectual function may be high in milder casesBalance disturbances; Facial palsyDysphagiaCranial nerve anomalies; Autistic features; Growth hormone deficiencyParathyroid hypoplasiaGonadotropin deficiencyHypothyroidism; Thymic hypoplasia or aplasiaT cell defect, mild to severeLymphopeniaHumoral defect (in some); Hypocalcemia]; #612370:Hypogonadotropic hypogonadism 5 with or without anosmia]

Comment on list classification: Good evidence from OMIM and expert

Created: 1 Feb 2016, 4:52 p.m.

Green List (high evidence)

Good evidence for causing CHARGE syndrome and the diagnosis could be missed early on and is very variable so put on green list.

Created: 19 Oct 2015, 6:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted