PanelApp (test)
  1. Panels
  2. Auditory Neuropathy
Description
This panel contains genes for non-syndromic and syndromic auditory neuropathy spectrum disorders. It was developed in consultation with RMH Neurogenetics, and is a consensus panel used by VCGS.

The conditions assessed on this panel contain absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. For hearing disorders with no or unknown involvement of the auditory nerve, consider using the more comprehensive Deafness_Isolated or Deafness_IsolatedAndComplex panels.
Panel Activity

4 reviewers

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Chern Lim (Victorian Clinical Genetics Services)

21 Entities

21 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
21 Entitiess
Green Green List (high evidence)
AIFM1
1 review
1 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
  • Deafness, X-linked 5 MIM#300614
  • non-syndromic auditory neuropathy spectrum disorder
Tags
Green Green List (high evidence)
DFNB59
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 59 MIM#610220
  • non-syndromic auditory neuropathy spectrum disorder
Tags
Green Green List (high evidence)
FDXR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • 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)
FXN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
  • STR
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
  • Syndromic auditory neuropathy spectrum disorder
Tags
Green Green List (high evidence)
GJB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Deafness, autosomal recessive 1A MIM#220290
  • non-syndromic auditory neuropathy spectrum disorder
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
Tags
Green Green List (high evidence)
NEFL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic auditory neuropathy spectrum disorder
Tags
Green Green List (high evidence)
OPA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic auditory neuropathy spectrum disorder
  • Optic atrophy plus syndrome, MIM# 125250
Tags
Green Green List (high evidence)
OTOF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Auditory neuropathy, autosomal recessive, 1 MIM#601071
  • non-syndromic auditory neuropathy spectrum disorder
Tags
Green Green List (high evidence)
PMP22
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic auditory neuropathy spectrum disorder
Tags
Green Green List (high evidence)
SLC52A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2 MIM#614707
  • Syndromic auditory neuropathy spectrum disorder
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
  • Syndromic auditory neuropathy spectrum disorder
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
  • Syndromic auditory neuropathy spectrum disorder
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
  • Syndromic auditory neuropathy spectrum disorder
Tags
Amber Amber List (moderate evidence)
ABHD12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
  • Syndromic auditory neuropathy spectrum disorder
Tags
Amber Amber List (moderate evidence)
DIAPH3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1 MIM#609129
  • non-syndromic auditory neuropathy spectrum disorder
Tags
Amber Amber List (moderate evidence)
TMEM126A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Optic atrophy 7 MIM#612989
  • Syndromic auditory neuropathy spectrum disorder
Tags
Amber Amber List (moderate evidence)
TRPV4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Auditory neuropathy spectrum disorder
  • Peripheral neuropathy
  • Hearing loss
Tags
Red Red List (low evidence)
MPZ
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Syndromic auditory neuropathy spectrum disorder
Tags
Red Red List (low evidence)
PCDH9
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Non-syndromic auditory neuropathy spectrum disorder
Tags

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