Deafness_IsolatedAndComplex (Version 1.194)

Description

This panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. It contains genes that cause isolated deafness, as well as genes that cause deafness as part of syndromic and other multi-system disorders.

The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. It has been compared with the Genomics England PanelApp 'Hearing Loss (non-syndromic)' panel, and all discordant gene classifications have been reviewed and resolved, with reciprocal reviews provided to Genomics England, January 2020.

Panel Activity

21 reviewers

Lauren Akesson (Royal Melbourne Hospital)
Sue White (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Rylee Peters (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Anna Ritchie (Victorian Clinical Genetics Services)
Achchuthan Shanmugasundram (Genomics England)
Lilian Downie (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Melanie Marty (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ee Ming Wong (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)

261 Entities

261 reviewed, 198 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 261 Entitiess
Green Green List (high evidence)	ABHD12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674 Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	ACTB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 1, MIM# 243310 Dystonia, juvenile-onset, MIM# 607371 Tags
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 20/26, MIM# 604717 Tags
Green Green List (high evidence)	ADGRV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 2C, MIM# 605472 Tags
Green Green List (high evidence)	AIFM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, X-linked 5, MIM# 300614 Tags
Green Green List (high evidence)	AK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Reticular dysgenesis MIM# 267500 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness MONDO:0009973 Tags
Green Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	AMMECR1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Tags
Green Green List (high evidence)	AP1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150 Intellectual disability enteropathy deafness ichthyosis keratoderma Tags
Green Green List (high evidence)	ATP2B2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 82, MIM# 619804 {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 Tags
Green Green List (high evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags
Green Green List (high evidence)	ATP6V1B2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zimmermann-Laband syndrome 2, MIM# 616455 Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480 Epileptic encephalopathy Tags
Green Green List (high evidence)	BCAP31	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan Syndrome with Multiple Lentigines, OMIM # 613707 Tags
Green Green List (high evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Sensorineural deafness with mild renal dysfunction, MIM# 602522 Bartter syndrome, type 4a, MIM# 602522 Tags
Green Green List (high evidence)	CABP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 93, MIM# 614899 Tags
Green Green List (high evidence)	CD164	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 66, MIM# 616969 Tags
Green Green List (high evidence)	CDC14A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 Tags
Green Green List (high evidence)	CDH23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 1D (MIM# 601067) Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067) Tags
Green Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488 Tags
Green Green List (high evidence)	CEACAM16	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 4B, MIM# 614614 Deafness, autosomal recessive 113, MIM# 618410 Tags
Green Green List (high evidence)	CEP250	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cone-rod dystrophy and hearing loss 2, MIM# 618358 Tags
Green Green List (high evidence)	CEP78	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cone-rod dystrophy and hearing loss, MIM#617236 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes CHARGE syndrome, MIM# 214800 Tags
Green Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533 CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CIB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 48, MIM# 609439 Tags
Green Green List (high evidence)	CISD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Wolfram syndrome 2, MIM# 604928 Tags
Green Green List (high evidence)	CLDN14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 29, MIM# 614035 Tags
Green Green List (high evidence)	CLDN9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, autosomal recessive 116, MIM#619093 Tags
Green Green List (high evidence)	CLPP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Green Green List (high evidence)	CLRN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 3A, MIM# 276902 Tags
Green Green List (high evidence)	COCH	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 9, MIM# 601369 Deafness, autosomal recessive 110, MIM# 618094 Tags
Green Green List (high evidence)	COL11A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type II, MIM# 604841 Marshall syndrome, MIM# 154780 Tags
Green Green List (high evidence)	COL11A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 13, MIM# 601868 Deafness, autosomal recessive 53, MIM# 609706 Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840 Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150 Tags
Green Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type I, MIM108300 Tags
Green Green List (high evidence)	COL4A5	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Alport syndrome 1, X-linked, MIM# 301050 Tags
Green Green List (high evidence)	COL9A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type IV, MIM#614134 Tags
Green Green List (high evidence)	COL9A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type V, MIM# 614284 Tags
Green Green List (high evidence)	COL9A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type VI, MIM# 620022 Tags
Green Green List (high evidence)	CRLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Green Green List (high evidence)	CRYM	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 40, MIM# 616357 Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green Green List (high evidence)	DFNA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 5, MIM# 600994 Tags new gene name
Green Green List (high evidence)	DFNB59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 59, MIM# 610220 Tags new gene name
Green Green List (high evidence)	DIAPH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 Tags
Green Green List (high evidence)	DMXL2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 71, MIM#617605 Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness Tags
Green Green List (high evidence)	DNMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 Neuropathy, hereditary sensory, type IE, 614116 Tags
Green Green List (high evidence)	EDN3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 4B, MIM# 613265 Tags
Green Green List (high evidence)	EDNRB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 4A, MIM# 277580 Tags
Green Green List (high evidence)	EPS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 102, MIM# 615974 Tags
Green Green List (high evidence)	EPS8L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness autosomal recessive 106, MIM# 617637 Tags
Green Green List (high evidence)	ESPN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 36, MIM# 609006 Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006 Tags
Green Green List (high evidence)	ESRRB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 35, MIM#608565 Tags
Green Green List (high evidence)	EYA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Branchiootic syndrome 1, MIM# 602588 Tags
Green Green List (high evidence)	EYA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 10, MIM# 601316 Tags
Green Green List (high evidence)	FDXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM# 617717 Tags
Green Green List (high evidence)	FGF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706 Tags
Green Green List (high evidence)	FITM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Siddiqi syndrome MIM#618635 dystonia deafness Tags
Green Green List (high evidence)	FOXI1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive distal renal tubular acidosis MONDO:0018440 Tags
Green Green List (high evidence)	GATA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Emberger syndrome, MIM# 614038 Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Tags
Green Green List (high evidence)	GATA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Tags
Green Green List (high evidence)	GGPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518 Muscular dystrophy Deafness Ovarian insufficiency Tags
Green Green List (high evidence)	GIPC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 15, MIM# 601869 Tags
Green Green List (high evidence)	GJB1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 MONDO:0010549 Tags
Green Green List (high evidence)	GJB2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Bart-Pumphrey syndrome, MIM#149200 Deafness, autosomal dominant 3A, MIM#601544 Deafness, autosomal recessive 1A, MIM#220290 Hystrix-like ichthyosis with deafness, MIM#602540 Keratitis-ichthyosis-deafness syndrome, MIM#148210 Keratoderma, palmoplantar, with deafness, MIM#148350 Vohwinkel syndrome, MIM# 124500 Tags
Green Green List (high evidence)	GJB6	1 review 1 green	Other	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive and autosomal dominant Tags SV/CNV
Green Green List (high evidence)	GPR156	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, autosomal recessive 121, MIM# 620551 Tags
Green Green List (high evidence)	GPSM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Chudley-McCullough syndrome, MIM# 604213 Tags
Green Green List (high evidence)	GREB1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Renal hypodysplasia/aplasia 3, OMIM# 617805 Deafness, autosomal dominant 80, MIM# 619274 Tags
Green Green List (high evidence)	GRHL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 28, MIM# 608641 Tags
Green Green List (high evidence)	GRXCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 25, MIM# 613285 Tags
Green Green List (high evidence)	GRXCR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 101, MIM# 615837 Tags
Green Green List (high evidence)	HAAO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660 Tags
Green Green List (high evidence)	HARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Green Green List (high evidence)	HGF	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 39, MIM# 608265 Tags
Green Green List (high evidence)	HOMER2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 68, MIM# 616707 Tags
Green Green List (high evidence)	HOXA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Athabaskan brainstem dysgenesis syndrome MIM#601536 Bosley-Salih-Alorainy syndrome MIM#601536 Tags
Green Green List (high evidence)	HOXA2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Microtia with or without hearing impairment, MIM# 612290 Tags
Green Green List (high evidence)	HSD17B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Perrault syndrome 1, MIM# 233400 Tags
Green Green List (high evidence)	ILDR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 42, MIM# 609646 Tags
Green Green List (high evidence)	KARS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196 Deafness, autosomal recessive 89, MIM# 613916 Tags new gene name
Green Green List (high evidence)	KCNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Jervell and Lange-Nielsen syndrome 2, MIM# 612347 Tags
Green Green List (high evidence)	KCNJ10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNJ16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, KCNJ16-related Renal tubulopathy deafness Tags
Green Green List (high evidence)	KCNQ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Jervell and Lange-Nielsen syndrome, MIM# 220400 Tags
Green Green List (high evidence)	KCNQ4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 2A, MIM# 600101 Tags
Green Green List (high evidence)	KDM3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Diets-Jongmans syndrome, MIM# 618846 Intellectual disability short stature deafness Tags
Green Green List (high evidence)	KIAA0391	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 54, MIM# 619737 Tags new gene name
Green Green List (high evidence)	KIAA1024L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, autosomal recessive 120, OMIM:620238 Tags new gene name
Green Green List (high evidence)	KIT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Piebaldism, MIM# 172800 Tags
Green Green List (high evidence)	KITLG	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Waardenburg syndrome, MONDO:0018094, KITLG-related Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186 Tags
Green Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4, MIM#615300 Tags
Green Green List (high evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LHFPL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 67, MIM# 610265 Tags
Green Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 3, MIM# 221750 Tags
Green Green List (high evidence)	LMNA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Laminopathy (MONDO#0021106), LMNA-related Tags
Green Green List (high evidence)	LMX1A	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 7 MIM#601412 Deafness, autosomal recessive Tags
Green Green List (high evidence)	LMX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Nail-patella syndrome (MIM#161200), MONDO:0008061 Tags
Green Green List (high evidence)	LOXHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 77, MIM# 613079 Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Donnai-Barrow syndrome, MIM#222448 Tags
Green Green List (high evidence)	LRTOMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 63, MIM# 611451 Tags
Green Green List (high evidence)	MAP1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 83, MIM# 619808 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan Syndrome with Multiple Lentigines, OMIM # 615279 Tags
Green Green List (high evidence)	MAP3K20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disease, MONDO:0002254, MAP3K20-related Tags
Green Green List (high evidence)	MARVELD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 49, MIM# 610153 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes 3MC syndrome 1, MIM# 257920 Tags
Green Green List (high evidence)	MITF	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 2A, MIM# 193510 Deafness Tags
Green Green List (high evidence)	MN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Conductive and sensorineural hearing loss CEBALID syndrome, MIM# 618774 Tags
Green Green List (high evidence)	MORC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Developmental delay Intellectual disability Growth retardation Microcephaly Craniofacial dysmorphism Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Tags
Green Green List (high evidence)	MPZL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 111, MIM#618145 Tags
Green Green List (high evidence)	MSRB3	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 74, MIM# 613718 Tags
Green Green List (high evidence)	MYH14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 4A, MIM# 600652 Tags
Green Green List (high evidence)	MYH9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 17, MIM# 603622 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 MYH9-related disorders Tags
Green Green List (high evidence)	MYO15A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 3, MIM# 600316 Tags
Green Green List (high evidence)	MYO3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 30, MIM# 607101 Deafness, autosomal dominant 90, MIM# 620722 Tags
Green Green List (high evidence)	MYO6	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 22, MIM# 606346 Deafness, autosomal recessive 37, MIM# 607821 Tags
Green Green List (high evidence)	MYO7A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 11, MIM# 601317 Deafness, autosomal recessive 2, 600060 Usher syndrome, type 1B, MIM# 276900 Tags
Green Green List (high evidence)	NARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 94, MIM# 618434 Combined oxidative phosphorylation deficiency 24, MIM#616239 Tags
Green Green List (high evidence)	NDRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, type 4D MIM#601455 Syndromic auditory neuropathy spectrum disorder Hereditary motor and sensory neuropathy Lom Tags
Green Green List (high evidence)	OGDHL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment Tags
Green Green List (high evidence)	OPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Optic atrophy plus syndrome, MIM# 125250 Tags
Green Green List (high evidence)	OSBPL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 67, MIM# 616340 Tags
Green Green List (high evidence)	OTOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 22, MIM# 607039 Tags SV/CNV
Green Green List (high evidence)	OTOF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal recessive, 1 (MIM # 601071) Deafness, autosomal recessive 9 (MIM # 601071 Tags
Green Green List (high evidence)	OTOG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 18B, MIM#614945 Tags
Green Green List (high evidence)	OTOGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 84B, MIM# 614944 Tags
Green Green List (high evidence)	P2RX2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 41, MIM# 608224 Tags
Green Green List (high evidence)	PAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Otofaciocervical syndrome 2, MIM# 615560 Tags
Green Green List (high evidence)	PAX3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 1, MIM# 193500 Tags
Green Green List (high evidence)	PBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641 Tags
Green Green List (high evidence)	PCDH15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 1F, MIM# 602083 Deafness, autosomal recessive 23, MIM# 609533 Tags
Green Green List (high evidence)	PDZD7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 57, MIM# 618003 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Heimler syndrome 1, MIM# 234580 Tags
Green Green List (high evidence)	PLOD3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysyl hydroxylase 3 deficiency, MIM# 612394 Sensorineural deafness Tags
Green Green List (high evidence)	PLS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 76, MIM# 618787 Tags
Green Green List (high evidence)	PLXNB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, PLXNB2 -related Tags
Green Green List (high evidence)	PNPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13, MIM#614932 Deafness, autosomal recessive 70, MIM#614934 Tags
Green Green List (high evidence)	POLD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381 Non-syndromic deafness Tags
Green Green List (high evidence)	POU3F4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, X-linked 2, MIM# 304400 Tags
Green Green List (high evidence)	POU4F3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 15, MIM# 602459 Tags
Green Green List (high evidence)	PRPS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, X-linked 1, MIM# 304500 Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070 Arts syndrome, MIM# 301835 Tags
Green Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan Syndrome with Multiple Lentigines, OMIM # 151100 Tags
Green Green List (high evidence)	PTPRQ	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 84A, MIM# 613391 Deafness, autosomal dominant 73, MIM# 617663 Tags
Green Green List (high evidence)	RABGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Tags
Green Green List (high evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan Syndrome with Multiple Lentigines, OMIM # 611554 Tags
Green Green List (high evidence)	RDX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 24, MIM# 611022 Tags
Green Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green Green List (high evidence)	RNF220	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags founder
Green Green List (high evidence)	S1PR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 68, MIM# 610419 Tags
Green Green List (high evidence)	SALL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Townes-Brocks syndrome 1, MIM#107480 Tags
Green Green List (high evidence)	SALL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Duane-radial ray syndrome, MIM# 607323 Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green Green List (high evidence)	SERPINB6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 91, MIM# 613453 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome, type 14, MIM# 617575 Tags
Green Green List (high evidence)	SIX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 23, MIM# 605192 Branchiootic syndrome 3, MIM# 608389 Tags
Green Green List (high evidence)	SLC12A2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kilquist syndrome, MIM#619080 deafness, intellectual disability, dysmorphic features, absent salivation Congenital, severe to profound hearing loss minor motor developmental delay Deafness, autosomal dominant 78, MIM# 619081 Tags
Green Green List (high evidence)	SLC17A8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 25, MIM#605583 Tags
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Tags
Green Green List (high evidence)	SLC26A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791 Pendred syndrome, MIM#274600 Tags
Green Green List (high evidence)	SLC4A11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Corneal endothelial dystrophy and perceptive deafness, MIM# 217400 Tags
Green Green List (high evidence)	SLC52A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
Green Green List (high evidence)	SLC52A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Tags
Green Green List (high evidence)	SLITRK6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes deafness and myopia, MIM#221200 Tags
Green Green List (high evidence)	SMPX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, X-linked 4, MIM# 300066 Tags
Green Green List (high evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266) Tags
Green Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577 Tags
Green Green List (high evidence)	SPATA5L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Deafness, autosomal recessive 119, MIM# 619615 Tags
Green Green List (high evidence)	SPTBN4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519 Tags
Green Green List (high evidence)	STRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 16, MIM# 603720 Tags SV/CNV
Green Green List (high evidence)	STXBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Very Early Onset Inflammatory Bowel Disease Bilateral Sensorineural Hearing Loss Immune Dysregulation Tags
Green Green List (high evidence)	SUCLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Tags
Green Green List (high evidence)	SYNE4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 76, MIM# 615540 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes DOORS syndrome, MIM#220500 Deafness, autosomal dominant 65, MIM#616044 Deafness , autosomal recessive 86, MIM#614617 Tags
Green Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Treacher-Collins syndrome (MONDO:0002457) Tags
Green Green List (high evidence)	TECTA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 21 603629 Deafness, autosomal dominant 8/12 601543 Tags
Green Green List (high evidence)	THUMPD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989 Tags
Green Green List (high evidence)	TIMM8A	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700 Tags
Green Green List (high evidence)	TMC1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 36, MIM# 606705 Deafness, autosomal recessive 7, MIM# 600974 Tags
Green Green List (high evidence)	TMIE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 6, MIM# 600971 Tags
Green Green List (high evidence)	TMPRSS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 8/10, MIM#601072 Tags
Green Green List (high evidence)	TPRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 79, MIM# 613307 Tags
Green Green List (high evidence)	TRAF7	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 Tags
Green Green List (high evidence)	TRIOBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 28, MIM# 609823 Tags
Green Green List (high evidence)	TRPV4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Auditory neuropathy spectrum disorder Peripheral neuropathy Hearing loss Tags
Green Green List (high evidence)	TUBB4B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis with early-onset deafness, MIM# 617879 Tags
Green Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags 5'UTR SV/CNV
Green Green List (high evidence)	USH1C	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 1C, MIM# 276904 Deafness, autosomal recessive 18A, MIM# 602092 Deafness, autosomal dominant Tags
Green Green List (high evidence)	USH1G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 1G, MIM# 606943 Tags
Green Green List (high evidence)	USH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 2A, MIM# 276901 Tags
Green Green List (high evidence)	USP48	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 85, MIM# 620227 Tags
Green Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autosomal recessive keratoderma-ichthyosis-deafness Tags
Green Green List (high evidence)	WFS1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 6/14/38, MIM# 600965 Wolfram syndrome 1 222300 Wolfram-like syndrome, autosomal dominant, MIM# 614296 Tags
Green Green List (high evidence)	WHRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome, type 2D, MIM# 611383 Deafness, autosomal recessive 31, MIM# 607084 Tags
Green Green List (high evidence)	YARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418 Tags
Green Green List (high evidence)	ZSCAN10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254 Tags
Amber Amber List (moderate evidence)	ABCC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Phenotypes Nonsyndromic hearing loss Deafness-77, autosomal dominant (DFNA77), MIM#618915 Tags
Amber Amber List (moderate evidence)	CACNA1D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Sinoatrial node dysfunction and deafness, MIM# 614896 Tags
Amber Amber List (moderate evidence)	CCDC50	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 44, MIM# 607453 Childhood onset deafness, progressive Tags
Amber Amber List (moderate evidence)	CD151	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags
Amber Amber List (moderate evidence)	CLIC5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 103, MIM# 616042 Tags
Amber Amber List (moderate evidence)	CLRN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Non-syndromic hearing loss Deafness, autosomal recessive 117, MIM# 619174 Tags
Amber Amber List (moderate evidence)	COL4A6	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, X-linked 6, MIM# 300914 Tags
Amber Amber List (moderate evidence)	DIABLO	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 64, MIM# 614152 Tags
Amber Amber List (moderate evidence)	DIAPH3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Auditory neuropathy, autosomal dominant, 1, MIM#609129 Tags
Amber Amber List (moderate evidence)	DSPP	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594 Tags
Amber Amber List (moderate evidence)	EHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, EHD1-related Tags
Amber Amber List (moderate evidence)	ELMOD3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 88, MIM# 615429 Deafness, autosomal dominant 81, MIM# 619500 Tags
Amber Amber List (moderate evidence)	ERAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Perrault syndrome 6, MIM# 617565 Tags
Amber Amber List (moderate evidence)	ESRP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 109, MIM# 618013 Tags
Amber Amber List (moderate evidence)	FBRSL1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Malformation and intellectual disability syndrome Tags
Amber Amber List (moderate evidence)	FOXF2	1 review	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)	GAS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, autosomal recessive 125, MIM#620877 Tags
Amber Amber List (moderate evidence)	MANF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Tags
Amber Amber List (moderate evidence)	MIR96	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 50, MIM# 613074 Tags
Amber Amber List (moderate evidence)	MTSS1L	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 Tags
Amber Amber List (moderate evidence)	NMNAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Tags founder SV/CNV
Amber Amber List (moderate evidence)	PAX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Papillorenal syndrome, MIM# 120330 Tags
Amber Amber List (moderate evidence)	PDSS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, MIM# 614651 Tags
Amber Amber List (moderate evidence)	PMP22	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1E 118300 Tags
Amber Amber List (moderate evidence)	PPIP5K2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 100, MIM# 618422 Tags
Amber Amber List (moderate evidence)	PSMC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Amber Amber List (moderate evidence)	RIPOR2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 104, MIM# 616515 Deafness, autosomal dominant 21, MIM# 607017 Tags founder
Amber Amber List (moderate evidence)	ROR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 108, MIM# 617654 Tags
Amber Amber List (moderate evidence)	SLC26A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 61, MIM# 613865 Tags
Amber Amber List (moderate evidence)	SLC9A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lichtenstein-Knorr syndrome, MIM# 616291 Tags
Amber Amber List (moderate evidence)	SNAI2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 2D, MIM# 608890 Tags
Amber Amber List (moderate evidence)	SOX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Anopthalmia and sensorineural hearing loss Microphthalmia, syndromic 3 206900 Tags
Amber Amber List (moderate evidence)	SPATC1L	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness Tags
Amber Amber List (moderate evidence)	SPEN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Radio-Tartaglia syndrome MIM#619312 Tags
Amber Amber List (moderate evidence)	SPNS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 115, MIM# 618457 Tags
Amber Amber List (moderate evidence)	THOC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Nonsyndromic hearing loss Tags
Amber Amber List (moderate evidence)	TMEM132E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 99, MIM# 618481 Tags
Amber Amber List (moderate evidence)	TMEM43	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Auditory neuropathy, autosomal dominant 3, MIM# 619832 Tags
Amber Amber List (moderate evidence)	TMTC2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant Deafness, autosomal recessive 122, MIM# 620714 Tags
Amber Amber List (moderate evidence)	TNC	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 56, MIM# 615629 Tags
Amber Amber List (moderate evidence)	TOP2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Autosomal dominant deafness Tags
Amber Amber List (moderate evidence)	USP53	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 Tags
Amber Amber List (moderate evidence)	WBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 107, MIM# 617639 Tags
Amber Amber List (moderate evidence)	ZMIZ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659) Tags
Red Red List (low evidence)	ADCY1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 44, MIM# 610154 Tags
Red Red List (low evidence)	BDP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 112, MIM#618257 Tags
Red Red List (low evidence)	CATSPER2	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CNRIP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Deafness, autosomal dominant 58 MIM#615654 Tags
Red Red List (low evidence)	DCDC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal recessive 66, MIM# 610212 Tags
Red Red List (low evidence)	FOXL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Otosclerosis 11 #MIM620576 Tags
Red Red List (low evidence)	GJB3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 2B, MIM# 612644 Tags
Red Red List (low evidence)	GJB4	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness Tags
Red Red List (low evidence)	GRAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal recessive 114, MIM# 618456 Tags
Red Red List (low evidence)	HARS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome type 3B, MIM# 614504 Tags
Red Red List (low evidence)	MCM2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 70, MIM# 616968 Tags
Red Red List (low evidence)	MET	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal recessive 97, MIM# 616705 Tags
Red Red List (low evidence)	NAT6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Auroneurodental syndrome, MIM# 620830 Tags new gene name
Red Red List (low evidence)	NR2F1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Red Red List (low evidence)	SCD5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 79, MIM#619086 Tags
Red Red List (low evidence)	SIX5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Branchiootorenal syndrome 2, MIM#610896 Tags disputed
Red Red List (low evidence)	TBL1Y	1 review 1 red	Other	Sources Expert Review Red Literature Phenotypes Deafness, Y-linked 2, MIM# 400047 Tags
Red Red List (low evidence)	TJP2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness Tags
Red Red List (low evidence)	TSPEAR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 98, MIM#614861 Tags disputed

Major version comments

2020-10-07 23:04 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Deafness_IsolatedAndComplex (Version 1.194)

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