Description
This is a combined panel for Congenital hearing impairment (profound/severe). 

This includes the disorders: 
- Autosomal dominant deafness
- Congenital hearing impairment

See individual eligibility statements for these disorders, available here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Lampros Mavrogiannis (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Maria Bitner-Glindzicz (UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Damian Smedley (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jun Shen (Harvard Medical School)

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

356 genes

356 reviewed, 107 green

List Gene Reviews Mode of inheritance Details
356 genes
Green Green List (high evidence)
WHRN
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • #607084:Deafness, autosomal recessive 31
  • #611383:Usher syndrome, type 2D
  • hearing loss
  • Nonsyndromic Hearing Loss, Recessive
Green Green List (high evidence)
ABHD12
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)
  • Hearing loss
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
  • #612674
  • Hearing loss, sensorineural
  • Subcapsular cataracts
  • Retinitis pigmentosa
  • Optic atrophy
  • Nystagmus
  • Pes cavus Achilles tendon contracture
  • Distal muscle atrophy due to neurologic disease
  • Ataxia Spasticity Extensor plantar responses
  • Hyperreflexia Intention
  • tremor
  • Dysarthria Dysmetria Cerebellar atrophy
  • Sensorimotor peripheral neuropathy
  • Distal sensory loss
  • Demyelinating neuropathy
  • Hyporeflexia
  • Decreased nerve conduction velocities
  • Normal serum phytanic and pristanic acid
Green Green List (high evidence)
ACTG1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Deafness, autosomal dominant 20/26, 604717
  • Baraitser-Winter syndrome 2, 614583
  • #604717
  • Hearing loss, sensorineural, bilateral, progressive
  • Hearing loss begins with loss of high frequencies
  • Audiogram shows sloping configuration
  • Deafness, profound, by 6th decade
  • Trigonocephaly/metopic ridge
  • Prominent/full/wide cheeks
  • Pointed chin
  • Retrognathia (in some patients)
  • Abnormally shaped ears
  • Deafness (in some patients)
  • Microphthalmia (in some patients)
  • Arched eyebrows
  • Long palpebral fissures
  • Eye coloboma (in some patients)
  • Hypertelorism/telecanthus
  • Ptosis
  • Short, upturned nose
  • Large, squared nose tip
  • Prominent nasal root on profile
  • Thick/prominent/everted lower lipCleft lip/palate (in some patients)
  • Long philtrum
  • Thin upper lip
  • Large mouth
  • Short neck (in some patients)
  • Pterygium colli (in some patients)
  • Heart defect (in some patients)
  • Kyphosis/scoliosis (in some patients)
  • Pectus (in some patients)
  • Enlarged ventricles (in some patients)
  • Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)
  • Epilepsy
Green Green List (high evidence)
ADGRV1
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Febrile seizures, familial, 4, 604352
  • Syndromic and Non Syndromic Hearing Loss
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
  • Usher syndrome, type 2C, 605472
Green Green List (high evidence)
ALMS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • #203800: Alstrom syndrome
Green Green List (high evidence)
ATP6V1B1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • hearing loss
  • Distal Renal Tubular Acidosis with Progressive Nerve Deafness
  • Renal tubular acidosis with deafness, 267300
Green Green List (high evidence)
BCS1L
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • #124000:Mitochondrial complex III deficiency, nuclear type 1
  • #256000:Leigh syndrome
  • #262000:Bjornstad syndrome
  • #603358:GRACILE syndrome
Green Green List (high evidence)
BSND
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Bartter syndrome, type 4a, 602522
  • #602522:Sensorineural deafness with mild renal dysfunction
  • Barttersyndrome,type4a, 602522
Green Green List (high evidence)
CABP2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Deafness, autosomal recessive 93, 614899
Green Green List (high evidence)
CDH23
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • hearing loss
  • Usher syndrome, type 1D, 601067
  • Deafness, autosomal recessive 12, 601386
  • Usher syndrome, type 1D/F digenic, 601067
  • Nonsyndromic Hearing Loss, Recessive
Green Green List (high evidence)
CEP78
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cone-Rod Dystrophy and Hearing Loss
  • CRDHL
  • OMIM: 617236
Green Green List (high evidence)
CHD7
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • #214800:CHARGE syndrome
  • #612370:Hypogonadotropic hypogonadism 5 with or without anosmia
Green Green List (high evidence)
CIB2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • #609439:Deafness, autosomal recessive 48
  • hearing loss
  • #614869:Usher syndrome, type IJ
Green Green List (high evidence)
CLDN14
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Recessive
  • #614035:Deafness, autosomal recessive 29
Green Green List (high evidence)
CLIC5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert
Phenotypes
  • #616042:?Deafness, autosomal recessive 103
  • PMID: 24781754 (Nijjmegen group) progressive hearing impairment, vestibular and possibly mild renal dysfunction
Green Green List (high evidence)
CLPP
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • #614129:Perrault syndrome 3
Green Green List (high evidence)
CLRN1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • hearing loss
  • #276902:Usher syndrome, type 3A
  • Retinitis pigmentosa 61, 614180
Green Green List (high evidence)
COCH
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • #601369:Deafness, autosomal dominant 9
  • Nonsyndromic Hearing Loss, Dominant
Green Green List (high evidence)
COL11A2
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • #184840:Stickler syndrome, type III
  • #215150:Otospondylomegaepiphyseal dysplasia
  • #277610:Weissenbacher-Zweymuller syndrome
  • #601868:Deafness, autosomal dominant 13
  • #609706:Deafness, autosomal recessive 53
  • #614524: Fibrochondrogenesis 2
  • Nonsyndromic Hearing Loss, Dominant
Green Green List (high evidence)
COL4A5
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • #301050:Alport syndrome
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6
  • hearing loss
Green Green List (high evidence)
COL4A6
4 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • #300914:?Deafness, X-linked 6
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
Green Green List (high evidence)
DFNA5
6 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Nonsyndromic Hearing Loss, Mixed
  • #600994:Deafness, autosomal dominant 5
  • hearing loss
Tags
  • new-gene-name
Green Green List (high evidence)
DFNB59
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Deafness, autosomal recessive 59, 610220
  • Nonsyndromic Hearing Loss, Recessive
Tags
  • new-gene-name
Green Green List (high evidence)
DNMT1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Dementia, Deafness, and Sensory Neuropathy
  • Neuropathy, hereditary sensory, type IE, 614116
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
Green Green List (high evidence)
DSPP
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Dentinogenesis imperfecta, Shields type II, 125490
  • Deafness, autosomal dominant 36, with dentinogenesis, 605594
  • Dentinogenesis imperfecta, Shields type III, 125500
  • Dentin dysplasia, type II, 125420
  • Dentin dysplasia, type II,1254203
Green Green List (high evidence)
EDN3
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Waardenburg syndrome, type 4B, 613265
  • Central hypoventilation syndrome, congenital, 209880
  • {Hirschsprung disease, susceptibility to}, 613712
Green Green List (high evidence)
EDNRB
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • #277580:Waardenburg syndrome, type 4A
  • #600155:{Hirschsprung disease, susceptibility to, 2}
  • #600501:ABCD syndrome
Green Green List (high evidence)
EPS8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Deafness, autosomal recessive 102, 615974
  • Deafness, prelingual, profound (affects all frequencies)
Green Green List (high evidence)
ESPN
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Deafness, autosomal recessive 36, 609006Deafness, neurosensory, without vestibular involvement, autosomal dominant
  • Deafness,autosomalrecessive36,609006Deafness,neurosensory,withoutvestibularinvolvement,autosomaldominant
Green Green List (high evidence)
ESRRB
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 35, 608565
  • hearing loss
Green Green List (high evidence)
EYA1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • hearing loss
  • #113650:Branchiootorenal syndrome 1, with or without cataracts
  • Anterior segment anomalies with or without cataract, 113650
  • Branchiootic syndrome 1, 602588
  • Otofaciocervical syndrome, 166780
Green Green List (high evidence)
EYA4
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 10, 601316
  • Cardiomyopathy, dilated, 1J, 605362
Green Green List (high evidence)
FGF3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • hearing loss
  • #610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia
Green Green List (high evidence)
GATA3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • #146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia
Green Green List (high evidence)
GIPC3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • #601869: Deafness, autosomal recessive 15
Green Green List (high evidence)
GJB2
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Deafness, autosomal recessive 1A, 220290
  • Deafness, autosomal dominant 3A, 601544
  • Vohwinkel syndrome, 124500
  • Keratoderma, palmoplantar, with deafness, 148350
  • Keratitis-ichthyosis-deafness syndrome, 148210
  • Hystrix-like ichthyosis with deafness, 602540
  • Bart-Pumphrey syndrome, 149200
  • Nonsyndromic Hearing Loss, Dominant
  • Hearing Loss or deafness
Green Green List (high evidence)
GJB3
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
  • Erythrokeratodermia variabilis et progressiva, 133200
  • Deafness, autosomal dominant 2B, 612644
  • Deafness, autosomal recessive
  • Deafness, autosomal dominant, with peripheral neuropathy
  • Deafness, digenic, GJB2/GJB3, 220290
Green Green List (high evidence)
GPSM2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Chudley-McCullough syndrome, 604213
  • also causes arachnoid cysts and MRI changes - clinical phenotpye maybe mild neurological symptoms
Green Green List (high evidence)
GRHL2
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Deafness, autosomal dominant 28, 608641
  • #616029: Ectodermal dysplasia/short stature syndrome
Green Green List (high evidence)
GRXCR1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 25, 613285
  • hearing loss
Green Green List (high evidence)
HAAO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
HOXA2
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microtia, Hearing Impairment, and Cleft Palate
  • Microtia, Hearing Impairment, and Cleft Palate
  • #612290:?Microtia, hearing impairment, and cleft palate (AR)
Green Green List (high evidence)
HSD17B4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
Phenotypes
  • hearing loss
  • D-bifunctional protein deficiency, 261515
  • Perrault syndrome 1, 233400
Green Green List (high evidence)
ILDR1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Deafness, autosomal recessive 42, 609646
Green Green List (high evidence)
KARS
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Green Green List (high evidence)
KCNE1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, 612347
  • JLNS
  • Long QT syndrome-5, 613695
Green Green List (high evidence)
KCNJ10
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • #600791:Enlarged vestibular aqueduct, digenic
  • #612780:SESAME syndrome
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
  • Nonsyndromic Hearing Loss, Mixed
Green Green List (high evidence)
KCNQ1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • #220400: Jervell and Lange-Nielsen syndrome [Congenital sensorineural hearing loss, Prolonged QT interval on EKG, SyncopeTorsades de pointes, Sudden cardiac death, Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1), Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1)]
Green Green List (high evidence)
KCNQ4
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert
Phenotypes
  • #600101:Deafness, autosomal dominant 2A
Green Green List (high evidence)
KIT
4 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert
  • UKGTN
  • Expert Review Green
Phenotypes
  • Piebaldism and congenital sensorineural hearing loss
Green Green List (high evidence)
LARS2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • #615300: Perrault syndrome 4
Green Green List (high evidence)
LHFPL5
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 67, 610265
Green Green List (high evidence)
LOXHD1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 77, 613079
  • hearing loss
Green Green List (high evidence)
LRTOMT
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 63, 611451
  • hearing loss
Green Green List (high evidence)
MARVELD2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 49, 610153
  • hearing loss
Green Green List (high evidence)
MASP1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • #257920: 3MC syndrome 1
Green Green List (high evidence)
MITF
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Waardenburg syndrome, type 2A, 193510
  • Waardenburg syndrome/ocular albinism, digenic, 103470
  • Tietz albinism-deafness syndrome, 103500
  • {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456
Green Green List (high evidence)
MSRB3
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hearing loss
  • Deafness, autosomal recessive 74, 613718
Green Green List (high evidence)
MT-RNR1
4 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Mitochondrial-Related Deafness
  • DEAFNESS, AMINOGLYCOSIDE-INDUCED
  • DEAFNESS
  • AUDITORY NEUROPATHY, INCLUDED
  • DEAFNESS
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • CARDIOMYOPATHY, RESTRICTIVE, INCLUDED
Tags
  • locus-type-rna-ribosomal
Green Green List (high evidence)
MT-TS1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • MERRF/MELAS OVERLAP SYNDROME
  • MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
  • KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES, INCLUDED
  • EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA
Green Green List (high evidence)
MYH14
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 4A, 600652
  • ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Green Green List (high evidence)
MYH9
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Dominant
  • May-Hegglin anomaly, 155100
  • Fechtner syndrome, 153640
  • Sebastian syndrome, 605249
  • Deafness, autosomal dominant 17, 603622
  • Epstein syndrome, 153650
  • Macrothrombocytopenia and progressive sensorineural deafness, 600208
Green Green List (high evidence)
MYO15A
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 3, 600316
  • hearing loss
Green Green List (high evidence)
MYO3A
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 30, 607101
  • hearing loss
Green Green List (high evidence)
MYO6
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 22, 606346
  • Nonsyndromic Hearing Loss, Recessive
  • #606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
  • #607821:Deafness, autosomal recessive 37
Green Green List (high evidence)
MYO7A
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • hearing loss
  • Usher syndrome, type 1B, 276900
  • Nonsyndromic Hearing Loss, Dominant
  • #600060:Deafness, autosomal recessive 2
  • Nonsyndromic Hearing Loss, Recessive
  • #601317:Deafness, autosomal dominant 11
Green Green List (high evidence)
OPA1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • #125250:Optic atrophy plus syndrome
  • #165500:Optic atrophy 1
  • #606657:{Glaucoma, normal tension, susceptibility to}
Green Green List (high evidence)
OSBPL2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • #616340: Deafness, autosomal dominant 67 [Hearing loss, sensorineural, mild to profound, Tinnitus at onset of high-frequency hearing loss, No vestibular symptoms]
Green Green List (high evidence)
OTOA
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • #607039: Deafness, autosomal recessive 22 [Deafness, sensorineural, severe to profound affecting all frequencies]
Green Green List (high evidence)
OTOF
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 9, 601071
  • hearing loss
  • Auditory neuropathy, autosomal recessive, 1, 601071
Green Green List (high evidence)
OTOG
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Deafness, autosomal recessive 18B, 614945
Green Green List (high evidence)
P2RX2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Deafness, autosomal dominant 41, 608224
Green Green List (high evidence)
PAX2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • RENAL-COLOBOMA SYNDROME
  • #120330:Papillorenal syndrome
  • #616002:Glomerulosclerosis, focal segmental, 7
Green Green List (high evidence)
PAX3
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • #122880:Craniofacial-deafness-hand syndrome
  • #148820:Waardenburg syndrome, type 3
  • #193500:Waardenburg syndrome, type 1
  • #268220:Rhabdomyosarcoma 2, alveolar
Green Green List (high evidence)
PCDH15
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Usher syndrome, type 1F, 602083
  • hearing loss
  • Deafness, autosomal recessive 23, 609533
  • Usher syndrome, type1D/F digenic, 601067
Green Green List (high evidence)
PDZD7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic
  • autosomal recessive nonsyndromic hearing loss
Green Green List (high evidence)
PNPT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Combined oxidative phosphorylation deficiency 13, 614932
  • Deafness, autosomal recessive 70, 614934
Green Green List (high evidence)
POU3F4
5 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, X-Linked
  • Deafness, X-linked 2, 304400
  • hearing loss
  • Nonsyndromic Hearing Loss, X-Linked
Green Green List (high evidence)
POU4F3
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 15, 602459
Green Green List (high evidence)
PRPS1
5 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, X-Linked
  • Gout, PRPS-related, 300661
  • hearing loss
  • #300661:Phosphoribosylpyrophosphate synthetase superactivity
  • #301835:Arts syndrome
  • #304500:Deafness, X-linked 1
  • #311070:Charcot-Marie-Tooth disease, X-linked recessive, 5
Green Green List (high evidence)
PTPRQ
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Deafness, autosomal recessive 84A, 613391
  • Deafness,autosomalrecessive84A,613391
Green Green List (high evidence)
RDX
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 24, 611022
  • hearing loss
Green Green List (high evidence)
SALL1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • #107480:Townes-Brocks syndrome
  • Townes-Brocks branchiootorenal-like syndrome
Green Green List (high evidence)
SALL4
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Duane-radial ray syndrome 607323
  • IVIC syndrome 147750
Green Green List (high evidence)
SERAC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • MEGDEL syndrome
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • MEGDHEL syndrome
Green Green List (high evidence)
SERPINB6
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • hearing loss
  • Deafness, autosomal recessive 91, 613453
Green Green List (high evidence)
SGPL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome 14 617575
Green Green List (high evidence)
SIX1
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • #605192:Deafness, autosomal dominant 23
  • #608389:Brachiootic syndrome 3
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
Green Green List (high evidence)
SLC26A4
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Pendred syndrome, 274600
  • hearing loss
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791
  • enlarged vestibular aqueducts
Green Green List (high evidence)
SLC4A11
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
  • UKGTN
Phenotypes
  • #217400:Corneal endothelial dystrophy and perceptive deafness
  • #217700:Corneal endothelial dystrophy 2, autosomal recessive
Green Green List (high evidence)
SMPX
5 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, X-Linked
  • Deafness, X-linked 4, 300066
  • hearing loss
Green Green List (high evidence)
SNAI2
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Waardenburg syndrome, type 2D, 608890
  • Piebaldism, 172800
Green Green List (high evidence)
SOX10
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Waardenburg syndrome, type 4C, 613266
  • #609136:PCWH syndrome
  • #611584:Waardenburg syndrome, type 2E, with or without neurologic involvement
Green Green List (high evidence)
SOX2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • #206900:Optic nerve hypoplasia and abnormalities of the central nervous system
  • Hearing loss, sensorineural
Green Green List (high evidence)
SPATA5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome 616577
Green Green List (high evidence)
STRC
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Deafness, autosomal recessive 16, 603720
Green Green List (high evidence)
TECTA
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 8/12, 601543
  • Nonsyndromic Hearing Loss, Recessive
  • Nonsyndromic Hearing Loss, Dominant
  • #603629:Deafness, autosomal recessive 21
Green Green List (high evidence)
TIMM8A
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • #304700:Mohr-Tranebjaerg syndrome
  • hearing loss
  • Deafness, X-linked 1, progressive
Green Green List (high evidence)
TMC1
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal recessive 7, 600974
  • Nonsyndromic Hearing Loss, Recessive
  • Nonsyndromic Hearing Loss, Dominant
  • #606705:Deafness, autosomal dominant 36
Green Green List (high evidence)
TMIE
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 6, 600971
  • hearing loss
Green Green List (high evidence)
TMPRSS3
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 8/10, 601072
  • hearing loss
Green Green List (high evidence)
TPRN
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Deafness, autosomal recessive 79, 613307
Green Green List (high evidence)
TRIOBP
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Deafness, autosomal recessive 28, 609823
Green Green List (high evidence)
USH1C
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Acadian and Samaritan variety Usher syndrome, type 1C, 276904
  • hearing loss
  • Deafness, autosomal recessive 18A, 602092
Green Green List (high evidence)
USH1G
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
Phenotypes
  • hearing loss
  • Usher syndrome, type 1G, 606943
Green Green List (high evidence)
USH2A
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Usher syndrome, type 2A, 276901
  • #613809:Retinitis pigmentosa 39
Green Green List (high evidence)
WFS1
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Wolfram syndrome, 222300
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 6/14/38, 600965
  • Wolfram-like syndrome, autosomal dominant, 614296
Amber Amber List (moderate evidence)
DMXL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Sensorineural Hearing Loss
  • ORPHA90636
  • OMIM:612186
Amber Amber List (moderate evidence)
HTRA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Amber Amber List (moderate evidence)
RIPOR2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hearing loss, non-syndromic, autosomal recessive (Diaz-Horta (2014) Proc Natl AcadSci USA 111,9864)
  • Sensorineural hearing loss
  • OrphaNet: ORPHA90636
  • OMIM:616515
Red Red List (low evidence)
ABHD5
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
Red Red List (low evidence)
ABR
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ACAN
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ACTB
1 review
1 red
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
  • Dystonia, juvenile onset, 607371
Red Red List (low evidence)
ADCY1
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Deafness, autosomal recessive 44, 610154
Red Red List (low evidence)
ALDH1A2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
AP3D1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
APAF1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
APOPT1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial Complex IV Deficiency, 220110
Red Red List (low evidence)
AQP4
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ARSB
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
Red Red List (low evidence)
ATF2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ATOH1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ATP1A2
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481Migraine, familial hemiplegic, 2, 602481
Red Red List (low evidence)
ATP2B2
1 review
Not set
Sources
  • Expert
  • UKGTN
Red Red List (low evidence)
ATP6V0A4
1 review
1 red
Not set
Sources
  • UKGTN
Red Red List (low evidence)
ATP8B1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
AXIN1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
BARHL1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
BBS1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
BBS4
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
BCAP31
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
Red Red List (low evidence)
BCR
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
BDNF
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
BDP1
3 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Red
  • Expert
Phenotypes
  • No OMIM phenotypeHearing loss (Girotto (2013) PLoS One 8,e80323)
  • PMID: 24312468 moderate to severe hearing impairment
Red Red List (low evidence)
BLOC1S5
1 review
Unknown
Sources
  • Expert list
Red Red List (low evidence)
BLOC1S6
1 review
Unknown
Sources
  • Expert list
Red Red List (low evidence)
BMP4
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
BSN
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
BTD
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
Red Red List (low evidence)
CACNA1D
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sinoatrial node dysfunction and deafness, 614896
Red Red List (low evidence)
CACNB2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CACNG2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CASP3
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CATSPER2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CCDC50
4 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 44, 607453
  • hearing loss
  • #607453:?Deafness, autosomal dominant 44
Red Red List (low evidence)
CD151
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
  • Nephropathywithpretibialepidermolysisbullosaanddeafness,609057
Red Red List (low evidence)
CDKN1B
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CDKN2D
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CEACAM16
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • #614614:?Deafness, autosomal dominant 4B
  • Sensorineural hearing loss, progressive bilateral postlingual
Red Red List (low evidence)
CELSR1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CHRNA9
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CISD2
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
Red Red List (low evidence)
CKB
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CLDN11
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CLDN9
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CLNS1A
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
COL11A1
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type II, 604841Marshall syndrome, 154780{Lumbar disc herniation, susceptibility to}, 603932Fibrochondrogenesis, 228520
  • Sticklersyndrome,typeII,604841
Red Red List (low evidence)
COL2A1
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type I, 108300Kniest dysplasia, 156550Achondrogenesis, type II or hypochondrogenesis, 200610SED congenita, 183900SMED Strudwick type, 184250Epiphyseal dysplasia, multiple, with myopia and deafness, 132450Spondyloperipheral dysplasia, 271700SED, Namaqualand typeOsteoarthritis with mild chondrodysplasia, 604864Vitreoretinopathy with phalangeal epiphyseal dysplasiaPlatyspondylic skeletal dysplasia, Torrance type, 151210Otospondylomegaepiphyseal dysplasia, 215150Avascular necrosis of the femoral head, 608805Legg-Calve-Perthes disease, 150600Stickler sydrome, type I, nonsyndromic ocular, 609508Czech dysplasia, 609162
  • ticklersyndrome,typeI,108300Kniestdysplasia,156550Achondrogenesis,typeIIorhypochondrogenesis,200610SEDcongenita,183900
Red Red List (low evidence)
COL4A3
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome, autosomal recessive, 203780Hematuria, benign familial, 141200Alport syndrome, autosomal dominant, 104200
  • Alportsyndrome,autosomalrecessive,203780Hematuria,benignfamilial,141200Alportsyndrome,autosomaldominant,104200
Red Red List (low evidence)
COL4A4
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome, autosomal recessive, 203780Hematuria,familial benign
  • Alportsyndrome,autosomalrecessive,203780Hematuria,familialbenign
Red Red List (low evidence)
COL9A1
1 review
1 red
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 6, 614135Stickler syndrome, type IV, 614134
  • Epiphysealdysplasia,multiple,6,614135Sticklersyndrome,typeIV,614134
Red Red List (low evidence)
COL9A2
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 2, 600204{Intervertebral disc disease, susceptibility to}, 603932Stickler syndrome, type V, 614284
  • Epiphysealdysplasia,multiple,2,600204{Intervertebraldiscdisease,susceptibilityto},603932Sticklersyndrome,typeV,614284
Red Red List (low evidence)
COL9A3
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CPLX1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
CRYM
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Deafness, autosomal dominant 40
Red Red List (low evidence)
DACT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Other
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
Red Red List (low evidence)
DDB2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DDR1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DIABLO
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hearing loss
  • #614152:Deafness, autosomal dominant 64
Red Red List (low evidence)
DIAPH1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Nonsyndromic Hearing Loss, Mixed
  • Deafness, autosomal dominant 1, 124900
  • hearing loss
Red Red List (low evidence)
DIAPH3
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1, 609129
Red Red List (low evidence)
DIO2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DIO3
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DLX2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DLX5
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DMD
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DVL1
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DVL2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
DVL3
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ELMOD3
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Deafness, autosomal recessive 88, 615429
Red Red List (low evidence)
EPHB1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
EPHB2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
EPHB3
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ERAL1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Perrault syndrome 6 617565
Red Red List (low evidence)
ERBB4
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ERCC1
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ERCC2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ERCC3
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ERCC4
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ERCC5
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ESR2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FABP4
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FAS
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FBXO2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FGFR1
3 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FGFR2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FGFR3
1 review
Not set
Sources
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
Red Red List (low evidence)
FIGN
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FKBP14
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
  • Ehlers Danlossyndromewithprogressivekyphoscoliosis,myopathy,andhearingloss,614557
Red Red List (low evidence)
FOXC1
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
Red Red List (low evidence)
FOXG1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FOXI1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Expert
Phenotypes
  • Nonsyndromic Hearing Loss, Mixed
  • #600791:Enlarged vestibular aqueduct
  • hearing loss
Red Red List (low evidence)
FZD3
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
FZD6
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GBX2
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GFER
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
  • Myopathy,mitochondrialprogressive,withcongenitalcataract,hearingloss,anddevelopmentaldelay,613076
Red Red List (low evidence)
GFI1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GJA1
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GJA1P1
3 reviews
2 red
Not set
Sources
  • Expert
Tags
  • locus-type-pseudogene
Red Red List (low evidence)
GJB1
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GJB4
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GJB5
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GJB6
3 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Deafness, autosomal dominant 3B, 612643
  • Deafness, autosomal recessive 1B, 612645
  • Deafness, digenic GJB2/GJB6, 220290
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Nonsyndromic Hearing Loss, Dominant
Red Red List (low evidence)
GLI3
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GPX1
2 reviews
2 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GRID1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GRXCR2
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Deafness, autosomal recessive 101, 615837
Red Red List (low evidence)
GSTM1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GSTP1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GSTT1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
GUSB
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
HAL
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
HARS
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Usher syndrome type 3B, 614504
Red Red List (low evidence)
HARS2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • #614926:?Perrault syndrome 2
Red Red List (low evidence)
HES1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
HES5
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
HGF
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Nonsyndromic Hearing Loss, Mixed
  • Deafness, autosomal recessive 39, 608265
Red Red List (low evidence)
HMX2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
HMX3
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
HOXA1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
HOXB1
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
IFT88
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
IGF1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency,608747
  • GrowthretardationwithdeafnessandmentalretardationduetoIGF1deficiency,608747
Red Red List (low evidence)
ITGA8
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
JAG1
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alagille syndrome, 118450Deafness, congenital heart defects and posterior embryotoxonTetralogy of Fallot, 187500
  • Alagillesyndrome,118450TetralogyofFallot,187500Deafness,congenitalheartdefects,andposteriorembryotoxon
Red Red List (low evidence)
JAG2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
KCNMA1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
KITLG
2 reviews
Not set
Sources
  • Expert
Red Red List (low evidence)
LAMA2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
LARGE1
2 reviews
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
LFNG
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
LHX3
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
LMO4
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
LMX1A
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
LRIG3
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
LRP2
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
MAFB
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MAP1A
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MCOLN3
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MIR182
1 review
1 red
Not set
Sources
  • Expert
Tags
  • locus-type-rna-micro
Red Red List (low evidence)
MIR183
2 reviews
1 red
Not set
Sources
  • Expert
Tags
  • locus-type-rna-micro
Red Red List (low evidence)
MIR96
2 reviews
Not set
Sources
  • Expert
  • UKGTN
Tags
  • locus-type-rna-micro
Red Red List (low evidence)
MKKS
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MOS
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MPV17
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MSX2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MT-TL1
1 review
1 red
Not set
Sources
  • UKGTN
Red Red List (low evidence)
MTAP
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MYO1A
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 48, 607841
  • Deafness,autosomaldominant48,607841
Red Red List (low evidence)
MYO1C
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
MYO1F
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NAV2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NDP
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
NEU1
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
NEUROD1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NEUROG1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NF1
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
NLRP3
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cold-induced autoinflammatory syndrome, familial, 120100
  • Coldinducedautoinflammatorysyndrome,familial,120100MuckleWellssyndrome,191900CINCAsyndrome,607115
Red Red List (low evidence)
NOTCH1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NOX3
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NOXO1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NR2F1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NR4A3
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NTF3
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NTN1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NTRK2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
NTRK3
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
OC90
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
OTOGL
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal recessive 84B, 614944
Red Red List (low evidence)
OTOP1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
OTOR
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
OTX1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
OTX2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
PET100
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Red Red List (low evidence)
PHEX
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
PITX2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
Red Red List (low evidence)
PMP22
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
PNOC
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
POLD1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Colorectal cancer, susceptibility to, 10}, 612591Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381
  • Colorectalcancer,susceptibilityto,10},612591Mandibularhypoplasia,deafness,progeroidfeatures,andlipodystrophysyndrome,615381
Red Red List (low evidence)
POLH
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
POLR1C
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
POLR1D
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
POU1F1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
PROP1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
PRRX1
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
PRRX2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
PTK7
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
RARA
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
RARB
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
RARG
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
RASA1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
RPGR
3 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Retinitis pigmentosa 3, 300029
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
  • Macular degeneration, X-linked atrophic, 300834
  • Cone-rod dystrophy, X-linked, 1, 304020
Red Red List (low evidence)
RPS6KA3
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
Red Red List (low evidence)
S1PR2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SCARB2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SCRIB
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SDHD
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paragangliomas 1, with or without deafness, 168000
Red Red List (low evidence)
SIX5
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Branchiootorenal syndrome 2, 610896
Red Red List (low evidence)
SLC12A2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SLC12A6
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
SLC12A7
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SLC17A8
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 25, 605583
Red Red List (low evidence)
SLC19A2
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
SLC1A3
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SLC26A5
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • #613865:?Deafness, autosomal recessive 61
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 61, 613865
  • hearing loss
Red Red List (low evidence)
SLC29A3
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome
  • Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism
Red Red List (low evidence)
SLC30A4
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SLC33A1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 42, autosomal dominant, 612539
  • Spasticparaplegia42,autosomaldominant,612539Congenitalcataracts,hearingloss,andneurodegeneration,614482
Red Red List (low evidence)
SLC4A7
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SLC9A1
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
SLITRK6
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness and myopia, 221200
Red Red List (low evidence)
SMS
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
SOBP
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
SOD1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SOX9
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
SPINK5
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
SPRY2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
ST3GAL5
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
SYNE4
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal recessive 76, 615540
Red Red List (low evidence)
SYNJ2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
TBC1D24
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Myoclonic epilepsy, infantile, familial, 605021
  • Myoclonicepilepsy,infantile,familial,605021Epilepticencephalopathy,earlyinfantile,16,615338
Red Red List (low evidence)
TBL1X
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
TBX1
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
TBX10
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
TCF21
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
TCOF1
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
TGFA
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
TGFB2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
THRA
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
THRB
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
TJP2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
  • Cholestasis, progressive familial intrahepatic 4, 615878
  • Hypercholanemia, familial, 607748
Red Red List (low evidence)
TMPRSS5
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
TNC
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 56, 615629
Red Red List (low evidence)
TNFRSF11B
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
TRMU
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Deafness, mitochondrial, modifier of}, 580000
  • {Deafness,mitochondrial,modifierof},580000
Red Red List (low evidence)
TRPV4
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
TSHR
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
TSPEAR
1 review
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal recessive 98, 614861
Red Red List (low evidence)
TUB
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
TYRP1
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
UCN
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
VANGL2
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
XPA
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
XPC
1 review
1 red
Not set
Sources
  • Expert
Red Red List (low evidence)
YAP1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coloboma, ocular, 120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433

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