Monogenic hearing loss
Gene: CHD7Inheritance: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 expertCreated: 1 Feb 2016, 4:52 p.m.
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
This gene has been classified as Green List (High Evidence).
Phenotypes for CHD7 were set to hearing loss; #214800:CHARGE syndrome; #612370:Hypogonadotropic hypogonadism 5 with or without anosmia
Publications for CHD7 were set to 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
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 Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Expert
CHD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Expert