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Hearing loss

Gene: CHD7

Green List (high evidence)

CHD7 (chromodomain helicase DNA binding protein 7)
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels

3 reviews

Jun Shen (Harvard Medical School)

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]

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert
Created: 1 Feb 2016, 4:52 p.m.

Maria Bitner-Glindzicz (UCL)

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

History Filter Activity

17 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CHD7 were set to hearing loss; #214800:CHARGE syndrome; #612370:Hypogonadotropic hypogonadism 5 with or without anosmia

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for CHD7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Expert