The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Monogenic hearing loss (Version 4.38)

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders

Relevant disorders: Hearing loss, Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), Non-syndromic hearing loss, R67
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Latest signed off version: v4.0 (22 Mar 2023)
Previously signed off versions: v3.0, v2.5
Previous code: 558ac48fbb5a16630dcfeaad

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R67 Monogenic hearing loss' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R67 Monogenic hearing loss'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This is a combined panel for Congenital hearing impairment (profound/severe) and includes:
- Autosomal dominant deafness
- Congenital hearing impairment

Panel Activity

26 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Bill Newman (Manchester Centre for Genomic Medicine)

Group: other
Workplace: other
Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
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
Emma Ashton (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Alistair Pagnamenta (University of Oxford)

Group: GeCIP domain
Workplace: Research lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Claire Walder (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sadaf Naz (University of the Punjab)

Group: Other
Workplace: Research lab
Kelsey Jones (Great Ormond Street Hospital)

Group: Other NHS organisation
Workplace: NHS clinical service
Barbara Vona (University Medical Center Göttingen)

Group: Other
Workplace: Research lab
Mafalda Gomes (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Andrew Mumford (University of Bristol)

Group: GeCIP domain
Workplace: Research lab

423 Entities

423 reviewed, 147 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 423 Entitiess
Green Green List (high evidence)	ABHD12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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 Tags
Green Green List (high evidence)	ACTG1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	ADGRV1	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen 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 Tags
Green Green List (high evidence)	AIFM1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Deafness, X-linked 5, OMIM:300614 Tags
Green Green List (high evidence)	ALMS1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes #203800: Alstrom syndrome Tags
Green Green List (high evidence)	AP1S1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Non-syndromic congenital intestinal failure MEDNIK syndrome, OMIM:609313 Tags
Green Green List (high evidence)	ATP6V1B1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Distal Renal Tubular Acidosis with Progressive Nerve Deafness Renal tubular acidosis with deafness, 267300 Tags
Green Green List (high evidence)	ATP6V1B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480 Zimmermann-Laband syndrome 2, OMIM:616455 Tags
Green Green List (high evidence)	BCS1L	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes #124000:Mitochondrial complex III deficiency, nuclear type 1 #256000:Leigh syndrome #262000:Bjornstad syndrome #603358:GRACILE syndrome Tags
Green Green List (high evidence)	BSND	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes hearing loss Bartter syndrome, type 4a, 602522 #602522:Sensorineural deafness with mild renal dysfunction Barttersyndrome,type4a, 602522 Tags
Green Green List (high evidence)	CABP2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal recessive 93, 614899 Tags
Green Green List (high evidence)	CCDC50	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal dominant 44, 607453 hearing loss #607453:?Deafness, autosomal dominant 44 Tags
Green Green List (high evidence)	CDC14A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 32, with or without immotile sperm, OMIM:608653 Tags
Green Green List (high evidence)	CDH23	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services 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 Tags
Green Green List (high evidence)	CEACAM16	6 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes #614614:?Deafness, autosomal dominant 4B Sensorineural hearing loss, progressive bilateral postlingual Tags
Green Green List (high evidence)	CEP250	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780 Tags
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 Tags
Green Green List (high evidence)	CHD7	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Phenotypes hearing loss #214800:CHARGE syndrome #612370:Hypogonadotropic hypogonadism 5 with or without anosmia Tags
Green Green List (high evidence)	CIB2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes #609439:Deafness, autosomal recessive 48 hearing loss #614869:Usher syndrome, type IJ Tags
Green Green List (high evidence)	CISD2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes hearing loss Wolfram syndrome 2, OMIM:604928 Tags
Green Green List (high evidence)	CLDN14	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Nonsyndromic Hearing Loss, Recessive #614035:Deafness, autosomal recessive 29 Tags
Green Green List (high evidence)	CLDN9	5 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Phenotypes Deafness, autosomal recessive 116, OMIM:619093 deafness, autosomal recessive 116, MONDO:0033670 Tags
Green Green List (high evidence)	CLPP	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes #614129:Perrault syndrome 3 Tags
Green Green List (high evidence)	CLRN1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss #276902:Usher syndrome, type 3A Retinitis pigmentosa 61, 614180 Tags
Green Green List (high evidence)	COCH	7 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal recessive 110 OMIM:618094 Deafness, autosomal dominant 9 OMIM:601369 deafness, autosomal recessive 110 MONDO:0054860 autosomal dominant nonsyndromic deafness 9 MONDO:0011058 Tags
Green Green List (high evidence)	COL11A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 37, OMIM:618533 Stickler syndrome, type II, OMIM:604841 Tags
Green Green List (high evidence)	COL11A2	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	COL2A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type I, OMIM:108300 Tags
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 Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes #301050:Alport syndrome diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6 hearing loss Tags
Green Green List (high evidence)	COL9A1	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type IV, OMIM:614134 Hearing loss Tags
Green Green List (high evidence)	COL9A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type V, OMIM:614284 Tags
Green Green List (high evidence)	CRYM	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal dominant 40, OMIM:616357 autosomal dominant nonsyndromic deafness 40, MONDO:0014603 Tags
Green Green List (high evidence)	DFNA5	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Mixed #600994:Deafness, autosomal dominant 5 hearing loss Tags new-gene-name
Green Green List (high evidence)	DFNB59	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Deafness, autosomal recessive 59, 610220 Nonsyndromic Hearing Loss, Recessive Tags new-gene-name
Green Green List (high evidence)	DIAPH1	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Mixed Deafness, autosomal dominant 1, 124900 hearing loss Tags
Green Green List (high evidence)	DMXL2	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes ?Deafness, autosomal dominant 71, OMIM:617605 Tags
Green Green List (high evidence)	DNMT1	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes hearing loss Dementia, Deafness, and Sensory Neuropathy Neuropathy, hereditary sensory, type IE, 614116 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 Tags
Green Green List (high evidence)	DSPP	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen 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 Tags
Green Green List (high evidence)	EDN3	6 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Waardenburg syndrome, type 4B, 613265 Central hypoventilation syndrome, congenital, 209880 {Hirschsprung disease, susceptibility to}, 613712 Tags
Green Green List (high evidence)	EDNRB	6 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes #277580:Waardenburg syndrome, type 4A #600155:{Hirschsprung disease, susceptibility to, 2} #600501:ABCD syndrome Tags
Green Green List (high evidence)	EPS8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Deafness, autosomal recessive 102, 615974 Deafness, prelingual, profound (affects all frequencies) Tags
Green Green List (high evidence)	EPS8L2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 106, OMIM:617637 Tags
Green Green List (high evidence)	ESPN	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal recessive 36, 609006Deafness, neurosensory, without vestibular involvement, autosomal dominant Deafness,autosomalrecessive36,609006Deafness,neurosensory,withoutvestibularinvolvement,autosomaldominant Tags
Green Green List (high evidence)	ESRRB	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 35, 608565 hearing loss Tags
Green Green List (high evidence)	EYA1	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	EYA4	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Nonsyndromic Hearing Loss, Dominant Deafness, autosomal dominant 10, 601316 Cardiomyopathy, dilated, 1J, 605362 Tags
Green Green List (high evidence)	FDXR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717 Tags
Green Green List (high evidence)	FGF3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes hearing loss #610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia Tags
Green Green List (high evidence)	FOXI1	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Nonsyndromic Hearing Loss, Mixed #600791:Enlarged vestibular aqueduct hearing loss Tags to_be_confirmed_NHSE
Green Green List (high evidence)	GATA3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes #146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia Tags
Green Green List (high evidence)	GGPS1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 Tags
Green Green List (high evidence)	GIPC3	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss #601869: Deafness, autosomal recessive 15 Tags
Green Green List (high evidence)	GJB2	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	GJB3	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags for-review to_be_confirmed_NHSE
Green Green List (high evidence)	GPSM2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Chudley-McCullough syndrome, 604213 also causes arachnoid cysts and MRI changes - clinical phenotpye maybe mild neurological symptoms Tags
Green Green List (high evidence)	GREB1L	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Deafness, autosomal dominant 80 OMIM:619274 deafness, autosomal dominant 80, MONDO:0030998 Tags gene-checked
Green Green List (high evidence)	GRHL2	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal dominant 28, OMIM:608641 Ectodermal dysplasia/short stature syndrome, OMIM:616029 Tags
Green Green List (high evidence)	GRXCR1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 25, 613285 hearing loss Tags
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)	HARS2	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Perrault syndrome 2, OMIM:614926 Tags
Green Green List (high evidence)	HOXA2	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green 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) Tags
Green Green List (high evidence)	HSD17B4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss D-bifunctional protein deficiency, 261515 Perrault syndrome 1, 233400 Tags
Green Green List (high evidence)	ILDR1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Deafness, autosomal recessive 42, 609646 Tags
Green Green List (high evidence)	16p12.2 recurrent region (distal)(includes OTOA) Loss ISCA-46297-Loss Region	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	KARS	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Tags new-gene-name
Green Green List (high evidence)	KCNE1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Tags
Green Green List (high evidence)	KCNJ10	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes #600791:Enlarged vestibular aqueduct, digenic #612780:SESAME syndrome Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome Nonsyndromic Hearing Loss, Mixed Tags
Green Green List (high evidence)	KCNJ16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Hypokalemic tubulopathy and deafness, OMIM:619406 Tags
Green Green List (high evidence)	KCNQ1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen 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)] Tags
Green Green List (high evidence)	KCNQ4	5 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal dominant 2A, OMIM:600101 Tags
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 Expert Review Green UKGTN Phenotypes Piebaldism and congenital sensorineural hearing loss Tags
Green Green List (high evidence)	LARS2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Perrault syndrome 4, OMIM:615300 Tags
Green Green List (high evidence)	LHFPL5	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 67, 610265 Tags
Green Green List (high evidence)	LMX1A	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Phenotypes Deafness, autosomal dominant 7 OMIM:601412 autosomal dominant nonsyndromic deafness 7 MONDO:0011074 Tags
Green Green List (high evidence)	LOXHD1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal recessive 77, OMIM:613079 Tags
Green Green List (high evidence)	LRTOMT	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 63, 611451 hearing loss Tags
Green Green List (high evidence)	MARVELD2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 49, 610153 hearing loss Tags
Green Green List (high evidence)	MASP1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes #257920: 3MC syndrome 1 Tags
Green Green List (high evidence)	MITF	5 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green 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 Tags
Green Green List (high evidence)	MN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes CEBALID syndrome, OMIM:618774 CEBALID syndrome, MONDO:0032908 Tags
Green Green List (high evidence)	MPZL2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 111, OMIM:618145 deafness, autosomal recessive 111, MONDO:0029142 Tags
Green Green List (high evidence)	MSRB3	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Deafness, autosomal recessive 74, 613718 Tags
Green Green List (high evidence)	MT-RNR1	4 reviews 2 green	MITOCHONDRIAL	Sources Emory Genetics Laboratory Expert Review Green UKGTN Phenotypes hearing loss Mitochondrial-Related Deafness DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS AUDITORY NEUROPATHY, INCLUDED DEAFNESS DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL CARDIOMYOPATHY, RESTRICTIVE, INCLUDED Tags gene-checked locus-type-rna-ribosomal
Green Green List (high evidence)	MT-TS1	3 reviews 2 green	MITOCHONDRIAL	Sources Emory Genetics Laboratory Expert Review Green 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 Tags gene-checked
Green Green List (high evidence)	MYH14	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Dominant Deafness, autosomal dominant 4A, 600652 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 Tags
Green Green List (high evidence)	MYH9	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	MYO15A	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal recessive 3 OMIM:600316 autosomal recessive nonsyndromic deafness 3 MONDO:0010860 Tags
Green Green List (high evidence)	MYO3A	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal recessive 30 OMIM:607101 autosomal recessive nonsyndromic deafness 30 MONDO:0011774 Tags
Green Green List (high evidence)	MYO6	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	MYO7A	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal dominant 11, OMIM:601317 Deafness, autosomal recessive 2, OMIM:600060 Usher syndrome, type 1B, OMIM:276900 Tags
Green Green List (high evidence)	OGDHL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 Tags
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 Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Tags
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] Tags
Green Green List (high evidence)	OTOA	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss #607039: Deafness, autosomal recessive 22 [Deafness, sensorineural, severe to profound affecting all frequencies] Tags
Green Green List (high evidence)	OTOF	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 9, 601071 hearing loss Auditory neuropathy, autosomal recessive, 1, 601071 Tags
Green Green List (high evidence)	OTOG	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal recessive 18B, 614945 Tags
Green Green List (high evidence)	OTOGL	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal recessive 84B, 614944 Tags
Green Green List (high evidence)	P2RX2	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal dominant 41, 608224 Tags
Green Green List (high evidence)	PAX2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Phenotypes RENAL-COLOBOMA SYNDROME #120330:Papillorenal syndrome #616002:Glomerulosclerosis, focal segmental, 7 Tags
Green Green List (high evidence)	PAX3	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes #122880:Craniofacial-deafness-hand syndrome #148820:Waardenburg syndrome, type 3 #193500:Waardenburg syndrome, type 1 #268220:Rhabdomyosarcoma 2, alveolar Tags
Green Green List (high evidence)	PBX1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549 Tags
Green Green List (high evidence)	PCDH15	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Usher syndrome, type 1F, 602083 hearing loss Deafness, autosomal recessive 23, 609533 Usher syndrome, type1D/F digenic, 601067 Tags
Green Green List (high evidence)	PDZD7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic autosomal recessive nonsyndromic hearing loss Tags
Green Green List (high evidence)	PLS1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 76, OMIM:618787 deafness, autosomal dominant 76, MONDO:0032917 Tags
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, OMIM:614932 Deafness, autosomal recessive 70, OMIM:614934 Tags
Green Green List (high evidence)	POU3F4	5 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, X-Linked Deafness, X-linked 2, 304400 hearing loss Nonsyndromic Hearing Loss, X-Linked Tags
Green Green List (high evidence)	POU4F3	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Dominant Deafness, autosomal dominant 15, 602459 Tags
Green Green List (high evidence)	PRPS1	5 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	PTPRQ	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal dominant 73, OMIM:617663 Deafness, autosomal recessive 84A, OMIM:613391 Tags Q3_23_MOI
Green Green List (high evidence)	RDX	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 24, 611022 hearing loss Tags
Green Green List (high evidence)	RNF220	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes Sensorineural hearing impairment, HP:0000407 Tags
Green Green List (high evidence)	S1PR2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Deafness, autosomal recessive 68 610419 Tags
Green Green List (high evidence)	SALL1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Phenotypes #107480:Townes-Brocks syndrome Townes-Brocks branchiootorenal-like syndrome Tags
Green Green List (high evidence)	SALL4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Phenotypes hearing loss Duane-radial ray syndrome 607323 IVIC syndrome 147750 Tags
Green Green List (high evidence)	SERAC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Green Green List (high evidence)	SERPINB6	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Deafness, autosomal recessive 91, 613453 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome 14 617575 Tags
Green Green List (high evidence)	SIX1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes #605192:Deafness, autosomal dominant 23 #608389:Brachiootic syndrome 3 hearing loss Nonsyndromic Hearing Loss, Dominant Tags
Green Green List (high evidence)	SLC12A2	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Bilateral sensorineural hearing loss Intellectual disability Secretory defects Tags
Green Green List (high evidence)	SLC17A8	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Nonsyndromic Hearing Loss, Dominant Deafness, autosomal dominant 25, 605583 Tags
Green Green List (high evidence)	SLC26A4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Pendred syndrome, 274600 hearing loss Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 enlarged vestibular aqueducts Tags
Green Green List (high evidence)	SLC26A5	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes #613865:?Deafness, autosomal recessive 61 Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 61, 613865 hearing loss Tags
Green Green List (high evidence)	SLC4A11	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes #217400:Corneal endothelial dystrophy and perceptive deafness #217700:Corneal endothelial dystrophy 2, autosomal recessive Tags
Green Green List (high evidence)	SLC52A2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2, OMIM:614707, MONDO:0013867 Sensorineural hearing loss disorder, MONDO:0020678 Tags treatable
Green Green List (high evidence)	SLC52A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Tags treatable
Green Green List (high evidence)	SLITRK6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness and myopia, OMIM:221200 high myopia-sensorineural deafness syndrome MONDO:0009082 Tags
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 Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, X-Linked Deafness, X-linked 4, 300066 hearing loss Tags
Green Green List (high evidence)	SOX10	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green 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 Tags
Green Green List (high evidence)	SOX2	5 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 Tags for-review to_be_confirmed_NHSE
Green Green List (high evidence)	SPATA5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 Tags new-gene-name
Green Green List (high evidence)	SPATA5L1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Deafness, autosomal recessive 119, OMIM:619615 Tags gene-checked new-gene-name
Green Green List (high evidence)	STRC	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, autosomal recessive 16, 603720 Tags
Green Green List (high evidence)	SYNE4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal recessive 76, 615540 Tags
Green Green List (high evidence)	TBC1D24	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal recessive 86, 614617 Deafness, autosomal dominant 65, 616044 DOORS syndrome, 220500 deafness, onychodystrophy, osteodystrophy, and mental retardation Tags
Green Green List (high evidence)	TECTA	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	TIMM8A	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes #304700:Mohr-Tranebjaerg syndrome hearing loss Deafness, X-linked 1, progressive Tags
Green Green List (high evidence)	TMC1	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Green Green List (high evidence)	TMIE	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 6, 600971 hearing loss Tags
Green Green List (high evidence)	TMPRSS3	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Deafness, autosomal recessive 8/10, 601072 hearing loss Tags
Green Green List (high evidence)	TPRN	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Deafness, autosomal recessive 79, 613307 Tags
Green Green List (high evidence)	TRIOBP	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Deafness, autosomal recessive 28, 609823 Tags
Green Green List (high evidence)	USH1C	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Recessive Acadian and Samaritan variety Usher syndrome, type 1C, 276904 hearing loss Deafness, autosomal recessive 18A, 602092 Tags
Green Green List (high evidence)	USH1G	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Usher syndrome, type 1G, 606943 Tags
Green Green List (high evidence)	USH2A	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Usher syndrome, type 2A, 276901 #613809:Retinitis pigmentosa 39 Tags
Green Green List (high evidence)	USP48	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes non-syndromic hearing loss nonsyndromic genetic deafness, MONDO:0019497 Tags
Green Green List (high evidence)	WFS1	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Wolfram syndrome, 222300 Nonsyndromic Hearing Loss, Dominant Deafness, autosomal dominant 6/14/38, 600965 Wolfram-like syndrome, autosomal dominant, 614296 Tags
Green Green List (high evidence)	WHRN	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes #607084:Deafness, autosomal recessive 31 #611383:Usher syndrome, type 2D hearing loss Nonsyndromic Hearing Loss, Recessive Tags
Amber Amber List (moderate evidence)	ABCC1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Nonsyndromic hearing loss ?Deafness, autosomal dominant 77, 618915 Tags
Amber Amber List (moderate evidence)	ACOX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Tags
Amber Amber List (moderate evidence)	ATP11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Deafness, autosomal dominant 84, OMIM:619810 Tags Q1_23_promote_green
Amber Amber List (moderate evidence)	ATP2B2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Amber UKGTN Phenotypes {Deafness, autosomal recessive 12, modifier of}, OMIM:601386 Deafness, autosomal dominant 82, OMIM:619804 hearing loss, autosomal dominant 82, MONDO:0030719 Tags Q2_23_NHS_review Q2_23_promote_green
Amber Amber List (moderate evidence)	CLIC5	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes #616042:?Deafness, autosomal recessive 103 PMID: 24781754 (Nijjmegen group) progressive hearing impairment, vestibular and possibly mild renal dysfunction Tags
Amber Amber List (moderate evidence)	CLRN2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Deafness, autosomal recessive 117, OMIM:619174 deafness, autosomal recessive 117, MONDO:0030905 Tags
Amber Amber List (moderate evidence)	COG4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Saul-Wilson syndrome, OMIM:618150 microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 Tags
Amber Amber List (moderate evidence)	COL4A6	6 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Phenotypes Deafness, X-linked 6, OMIM:300914 Tags
Amber Amber List (moderate evidence)	COL9A3	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Amber Phenotypes Stickler syndrome, MONDO:0019354 Tags to_be_confirmed_NHSE
Amber Amber List (moderate evidence)	CRLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 57, OMIM:620167 Tags Q1_23_promote_green
Amber Amber List (moderate evidence)	DIABLO	5 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss #614152:Deafness, autosomal dominant 64 Tags
Amber Amber List (moderate evidence)	DIAPH3	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Phenotypes Auditory neuropathy, autosomal dominant, 1, 609129 Tags
Amber Amber List (moderate evidence)	DNAJC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	ELMOD3	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes ?Deafness, autosomal recessive 88, 615429 Deafness, autosomal dominant Tags
Amber Amber List (moderate evidence)	ESRP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 109, 618013 Tags
Amber Amber List (moderate evidence)	FOXF2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes profound sensorineural hearing loss (SNHL) cochlea malformations incomplete partition type I anomaly of the cochlea Tags
Amber Amber List (moderate evidence)	GJB6	6 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN 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 Tags
Amber Amber List (moderate evidence)	GPR156	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Research Phenotypes sensorineural hearing loss disorder, MONDO:0020678 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	HGF	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonsyndromic Hearing Loss, Mixed Deafness, autosomal recessive 39, 608265 Tags watchlist
Amber Amber List (moderate evidence)	HOMER2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal dominant 68, MIM#616707 Tags
Amber Amber List (moderate evidence)	KDM3B	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diets-Jongmans syndrome, OMIM:618846 Diets-Jongmans syndrome, MONDO:0030012 Tags watchlist
Amber Amber List (moderate evidence)	KIAA1024L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, autosomal recessive 120, OMIM:620238 Tags new-gene-name Q2_24_promote_green
Amber Amber List (moderate evidence)	KITLG	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Amber Phenotypes Deafness, autosomal dominant 69, unilateral or asymmetric 616697 Tags
Amber Amber List (moderate evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	MET	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 97 OMIM:616705 autosomal recessive nonsyndromic deafness 97 MONDO:0014739 Tags
Amber Amber List (moderate evidence)	MIR96	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Amber UKGTN Phenotypes Deafness, autosomal dominant 50 613074 Tags locus-type-rna-micro
Amber Amber List (moderate evidence)	MORC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Sensorineural hearing loss Developmental delay Intellectual disability Growth retardation Microcephaly Craniofacial dysmorphism Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Tags
Amber Amber List (moderate evidence)	NARS2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 94 OMIM:618434 Combined oxidative phosphorylation deficiency 24 OMIM:616239 deafness, autosomal recessive 94 MONDO:0032749 combined oxidative phosphorylation defect type 24 MONDO:0014547 Tags
Amber Amber List (moderate evidence)	NLRP12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Familial cold autoinflammatory syndrome 2, OMIM:611762 sensorineural hearing loss disorder, MONDO:0020678 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	OXR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes sensorineural hearing loss disorder, MONDO:0020678 Tags
Amber Amber List (moderate evidence)	PDSS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, OMIM:614651 Tags watchlist
Amber Amber List (moderate evidence)	PMP22	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Amber Phenotypes Charcot-Marie-Tooth disease, type 1E OMIM:118300 Charcot-Marie-Tooth disease type 1E MONDO:0007311 Tags
Amber Amber List (moderate evidence)	PPIP5K2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 100, MIM#618422 deafness, autosomal recessive 100 MONDO:0032740 Tags
Amber Amber List (moderate evidence)	PSMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354 neurodevelopmental disorder, MONDO:0700092 autosomal dominant nonsyndromic hearing loss, MONDO:0019587 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	RIPOR2	8 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 21, OMIM:607017 ?Deafness, autosomal recessive 104, OMIM:616515 Tags founder-effect
Amber Amber List (moderate evidence)	ROR1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 108, MIM#617654 deafness, autosomal recessive 108 MONDO:0033200 Tags
Amber Amber List (moderate evidence)	SNAI2	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Phenotypes Waardenburg syndrome, type 2D, OMIM:608890 Waardenburg syndrome type 2, MONDO_0019517 Tags
Amber Amber List (moderate evidence)	SPATC1L	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness Tags
Amber Amber List (moderate evidence)	SPNS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 115, MIM#618457 Tags
Amber Amber List (moderate evidence)	SPTBN4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Tags watchlist
Amber Amber List (moderate evidence)	STX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hearing impairment, HP:0000365 Tags
Amber Amber List (moderate evidence)	STXBP3	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Very Early Onset Inflammatory Bowel Disease Sensorineural hearing loss Tags
Amber Amber List (moderate evidence)	THOC1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Nonsyndromic hearing loss nonsyndromic genetic deafness MONDO:0019497 Tags
Amber Amber List (moderate evidence)	TMTC2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Deafness Sensorineural hearing loss Tags
Amber Amber List (moderate evidence)	TNC	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 56, 615629 Tags
Amber Amber List (moderate evidence)	TOP2B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal dominant nonsyndromic hearing loss Tags
Amber Amber List (moderate evidence)	WBP2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 107, 617639 Tags
Amber Amber List (moderate evidence)	YARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C 608323 Intellectual disability deafness nystagmus liver dysfunction Tags new-gene-name watchlist
Red Red List (low evidence)	ABHD5	1 review 1 red	Not set	Sources Emory Genetics Laboratory Phenotypes hearing loss Tags
Red Red List (low evidence)	ABR	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ACAN	2 reviews 2 red	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	ADCY1	1 review	Not set	Sources Expert Radboud University Medical Center, Nijmegen Phenotypes ?Deafness, autosomal recessive 44, 610154 Tags
Red Red List (low evidence)	ALDH1A2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	AP3D1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	APAF1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	APOPT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Red Red List (low evidence)	AQP4	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ARSB	1 review	Not set	Sources Emory Genetics Laboratory Phenotypes hearing loss Tags
Red Red List (low evidence)	ATF2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ATOH1	2 reviews 2 red	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	ATP6V0A4	1 review 1 red	Not set	Sources UKGTN Phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 Tags
Red Red List (low evidence)	ATP8B1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	AXIN1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	BARHL1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	BBS1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	BBS4	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	BCAP31	2 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 Tags
Red Red List (low evidence)	BCR	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	BDNF	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	BDP1	5 reviews 2 red	Not set	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes No OMIM phenotypeHearing loss (Girotto (2013) PLoS One 8,e80323) PMID: 24312468 moderate to severe hearing impairment Tags
Red Red List (low evidence)	BLOC1S5	1 review	Unknown	Sources Expert list Tags
Red Red List (low evidence)	BLOC1S6	1 review	Unknown	Sources Expert list Tags
Red Red List (low evidence)	BMP4	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	BSN	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	BTD	1 review	Not set	Sources Emory Genetics Laboratory Phenotypes hearing loss Tags
Red Red List (low evidence)	CACNA1D	1 review	Not set	Sources Expert Radboud University Medical Center, Nijmegen Phenotypes Sinoatrial node dysfunction and deafness, 614896 Tags
Red Red List (low evidence)	CACNB2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CACNG2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CASP3	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CATSPER2	2 reviews 2 red	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	CD164	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes ?Deafness, autosomal dominant 66 616969 Tags
Red Red List (low evidence)	CDKN1B	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CDKN2D	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CELSR1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CHRNA9	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CKB	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CLDN11	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CLNS1A	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	CNRIP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Deafness, autosomal dominant 58 MIM#615654 Tags
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 Tags
Red Red List (low evidence)	COL4A4	1 review	Not set	Sources Expert Radboud University Medical Center, Nijmegen Phenotypes Alport syndrome 2, autosomal recessive, OMIM:203780 Hematuria,familial benign, OMIM:141200 Tags
Red Red List (low evidence)	CPLX1	2 reviews 2 red	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	DDB2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	DDR1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	DIO2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	DIO3	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	DLX2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	DLX5	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	DMD	2 reviews 2 red	Not set	Sources Expert Tags Skewed X-inactivation
Red Red List (low evidence)	DVL1	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	DVL2	2 reviews 2 red	Not set	Sources Expert Tags gene-checked
Red Red List (low evidence)	DVL3	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	EPHA10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes postlingual non-syndromic genetic hearing loss, MONDO:0016298 Tags
Red Red List (low evidence)	EPHB1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	EPHB2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	EPHB3	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ERAL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Perrault syndrome 6 617565 Tags
Red Red List (low evidence)	ERBB4	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ERCC1	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ERCC2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ERCC3	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ERCC4	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ERCC5	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ESR2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	FABP4	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	FAS	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	FBXO2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	FGFR1	3 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	FGFR2	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	FGFR3	1 review	Not set	Sources Emory Genetics Laboratory Expert Phenotypes hearing loss Tags
Red Red List (low evidence)	FIGN	2 reviews 2 red	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	FOXC1	1 review	Not set	Sources Emory Genetics Laboratory Phenotypes hearing loss Tags
Red Red List (low evidence)	FOXG1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	FZD3	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	FZD6	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GBX2	2 reviews 2 red	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	GFI1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GJA1	2 reviews 1 red	Not set	Sources Expert Phenotypes Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400 Tags
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 Tags
Red Red List (low evidence)	GJB4	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GJB5	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GLI3	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GOSR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes hearing loss, autosomal recessive, MONDO:0019588 Tags
Red Red List (low evidence)	GPX1	2 reviews 2 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GRAP	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Deafness, autosomal recessive 114, OMIM:618456 Tags
Red Red List (low evidence)	GRID1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GRXCR2	2 reviews 1 green	Not set	Sources Expert Radboud University Medical Center, Nijmegen Phenotypes ?Deafness, autosomal recessive 101, 615837 Tags
Red Red List (low evidence)	GSTM1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GSTP1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	GSTT1	2 reviews 1 red	Not set	Sources Expert Tags ensembl_ids_known_missing
Red Red List (low evidence)	GUSB	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	HAL	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	HARS	6 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Usher syndrome type 3B, 614504 Tags new-gene-name
Red Red List (low evidence)	HES1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	HES5	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	HMX2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	HMX3	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	HOXA1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	HOXB1	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	HTRA2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Red Red List (low evidence)	IFT88	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	IGF1	1 review	Not set	Sources Expert Radboud University Medical Center, Nijmegen Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency,608747 GrowthretardationwithdeafnessandmentalretardationduetoIGF1deficiency,608747 Tags
Red Red List (low evidence)	ITGA8	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	JAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Radboud University Medical Center, Nijmegen Phenotypes ?Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992 Tags
Red Red List (low evidence)	JAG2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	KCNMA1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	LAMA2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	LARGE1	2 reviews 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	LFNG	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	LHX3	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	LMO4	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	LRIG3	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	LRP2	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	MAFB	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	MAP1A	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	MCOLN3	1 review 1 red	Not set	Sources Expert Tags
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)	MKKS	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	MOS	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	MPV17	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	MSX2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	MT-TL1	1 review 1 red	Not set	Sources UKGTN Tags
Red Red List (low evidence)	MTAP	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	MYO1A	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Nonsyndromic Hearing Loss, Dominant Deafness, autosomal dominant 48, 607841 Deafness,autosomaldominant48,607841 Tags
Red Red List (low evidence)	MYO1C	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	MYO1F	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NAV2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NCOA3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes non-syndromic hearing loss Tags
Red Red List (low evidence)	NDP	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	NEU1	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	NEUROD1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NEUROG1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NF1	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	NLRP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen Phenotypes CINCA syndrome, OMIM:607115 Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772 Muckle-Wells syndrome, OMIM:191900 Tags
Red Red List (low evidence)	NOTCH1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NOX3	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NOXO1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NR2F1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NR4A3	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NTF3	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NTN1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NTRK2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	NTRK3	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	OC90	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	OTOP1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	OTOR	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	OTX1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	OTX2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	PET100	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Red Red List (low evidence)	PHEX	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	PIK3C2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Oculoskeletodental syndrome 618440 Tags
Red Red List (low evidence)	PITX2	1 review 1 red	Not set	Sources Emory Genetics Laboratory Phenotypes hearing loss Tags
Red Red List (low evidence)	PLEK	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Deafness, autosomal dominant 58 MIM#615654 Tags
Red Red List (low evidence)	PNOC	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	POLD1	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 Tags
Red Red List (low evidence)	POLH	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	POLR1C	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	POLR1D	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	POU1F1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	PPP3R1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Deafness, autosomal dominant 58 MIM#615654 Tags
Red Red List (low evidence)	PROP1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	PRRX1	1 review	Not set	Sources Expert Phenotypes Agnathia-otocephaly complex, OMIM:202650 Tags
Red Red List (low evidence)	PRRX2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	PTK7	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	RARA	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	RARB	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	RARG	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	RASA1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	RPGR	5 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 Tags
Red Red List (low evidence)	RPS6KA3	1 review	Not set	Sources Emory Genetics Laboratory Phenotypes hearing loss Tags
Red Red List (low evidence)	SARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 Tags new-gene-name
Red Red List (low evidence)	SCARB2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	SCD5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Deafness, autosomal dominant 79 OMIM:619086 deafness, autosomal dominant 79 MONDO:0033668 Tags
Red Red List (low evidence)	SCRIB	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	SDHD	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Paragangliomas 1, with or without deafness, 168000 Tags
Red Red List (low evidence)	SIX5	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Branchiootorenal syndrome 2, 610896 Tags
Red Red List (low evidence)	SLC12A6	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	SLC12A7	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	SLC19A2	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	SLC1A3	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	SLC29A3	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism Tags
Red Red List (low evidence)	SLC30A4	1 review 1 red	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	SLC4A7	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	SLC9A1	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	SMS	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	SOBP	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	SOD1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	SOX9	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	SPINK5	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	SPRY2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	ST3GAL5	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	SYNJ2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	TBL1X	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	TBX1	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	TBX10	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	TCF21	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	TCOF1	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	TGFA	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	TGFB2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	THRA	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	THRB	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	TJP2	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes hearing loss Nonsyndromic Hearing Loss, Dominant Cholestasis, progressive familial intrahepatic 4, 615878 Hypercholanemia, familial, 607748 Tags
Red Red List (low evidence)	TMEM132E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonsyndromic Hearing Loss Tags watchlist
Red Red List (low evidence)	TMPRSS5	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	TNFRSF11B	1 review	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	TRPV4	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	TSHR	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	TSPEAR	3 reviews	Not set	Sources Expert Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal recessive 98, 614861 Tags
Red Red List (low evidence)	TUB	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	TYRP1	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	UCN	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	VANGL2	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	XPA	1 review 1 red	Not set	Sources Expert Tags
Red Red List (low evidence)	XPC	1 review 1 red	Not set	Sources Expert Tags
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 Tags
Red Red List (low evidence)	ZPR1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 Tags founder-effect

Major version comments

2023-03-22 14:48 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 13:21 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-08-19 11:25 Ellen McDonagh (Genomics England Curator) promoted panel to 2.0
The content of this panel (version v1.127) was signed off under NHS Genomic Medicine Service governance on (19/Aug/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

07.03.16 External reviews were evaluated internally, mode of inheritance added for each gene, and panel revised accordingly.

Monogenic hearing loss (Version 4.38)

26 reviewers

423 Entities

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