Deafness_Isolated (Version 1.63)

Description

This panel contains genes for conditions that present with isolated deafness in childhood and early adulthood.

For individuals with additional features at the time of presentation, adult-onset hearing loss and for infants early in the diagnostic trajectory, consider using the more comprehensive Deafness_IsolatedAndComplex panel.

With thanks to Dr Lilian Downie for the design of this panel. This panel is maintained by VCGS.

Panel Activity

18 reviewers

Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Anna Ritchie (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

150 Entities

150 reviewed, 110 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 150 Entitiess
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)	ALMS1	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 Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	ATP11A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 84, MIM# 619810 Auditory neuropathy, autosomal dominant 2, MIM# 620384 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)	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 SNHL and pili torti 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)	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 Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067) Usher syndrome, type 1D (MIM# 601067) 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)	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)	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 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)	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 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)	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
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
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 124900 Tags
Green Green List (high evidence)	DMXL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 81, MIM#618663, with deafness Autosomal dominant hearing loss 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	2 reviews 2 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)	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)	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)	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 Keratitis-ichthyosis-deafness syndrome, MIM#148210 Deafness, autosomal dominant 3A, MIM#601544 Bart-Pumphrey syndrome, MIM#149200 Vohwinkel syndrome, MIM# 124500 Deafness, autosomal recessive 1A, MIM#220290 Keratoderma, palmoplantar, with deafness, MIM#148350 Hystrix-like ichthyosis with deafness, MIM#602540 Tags
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 list Expert Review Green Phenotypes 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)	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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 39, MIM# 608265 Tags founder
Green Green List (high evidence)	HOMER2	1 review	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)	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	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 89, MIM# 613916 Tags
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)	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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 2A, MIM# 600101 Tags
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)	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 SV/CNV
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)	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)	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)	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)	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)	MITF	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 Waardenburg syndrome, type 2A, MIM# 193510 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	BIALLELIC, autosomal or pseudoautosomal	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)	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)	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 list Expert Review Green Phenotypes Deafness, autosomal dominant 41, MIM#608224 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)	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)	PKHD1L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes non syndromic hearing loss (MONDO:0020678) 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)	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)	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)	PTPRQ	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 Deafness, autosomal recessive 84A, MIM# 613391 Deafness, autosomal dominant 73, MIM# 617663 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)	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)	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)	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 Brancio-otic syndrome MIM# 608389 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)	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, biallelic mutations in females	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)	SPATA5L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, autosomal recessive 119, MIM# 619615 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)	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 Deafness, autosomal dominant 65, MIM#616044 DOORS syndrome, MIM#220500 Deafness , autosomal recessive 86, MIM#614617 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)	TIMM8A	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 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)	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)	TUBB4B	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 Leber congenital amaurosis with early-onset deafness Tags
Green Green List (high evidence)	USH1C	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 1C, MIM# 276904 Deafness, autosomal recessive 18A, MIM# 602092 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)	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
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)	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	2 reviews	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)	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 5'UTR
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 dominant 81, MIM# 619500 Deafness, autosomal recessive 88, MIM# 615429 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)	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)	KITLG	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 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)	NARS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 94, MIM#618434 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)	REST	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal dominant 27, MIM# 612431 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
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)	SMARCA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Otosclerosis MONDO:0005349, SMARCA4-related 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)	SPATC1L	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness 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)	STX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, autosomal recessive 123, MIM# 620745 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	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 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)	WBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Deafness, autosomal recessive 107, MIM# 617639 Tags
Red Red List (low evidence)	ADAMTS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related Tags
Red Red List (low evidence)	CEACAM16	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 4B, MIM# 614614 Deafness, autosomal recessive 113, MIM# 618410 Tags
Red Red List (low evidence)	CENPP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes autosomal dominant nonsyndromic hearing loss MONDO:0019587 Tags
Red Red List (low evidence)	FOXI1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes enlarged vestibular aqueduct syndrome MONDO:0023069 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)	GOSR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes hearing loss, autosomal recessive, MONDO:0019588, GOSR2-related Tags
Red Red List (low evidence)	MPDZ	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Tags
Red Red List (low evidence)	MVD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related Tags
Red Red List (low evidence)	NCOA3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Non-syndromic hearing loss Tags
Red Red List (low evidence)	SEZ6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related Tags
Red Red List (low evidence)	TOGARAM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related Tags
Red Red List (low evidence)	TRRAP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Deafness, autosomal dominant 75 MIM#618778 Tags

Major version comments

2020-10-19 00:36 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Deafness_Isolated (Version 1.63)

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