1. Panels
  2. Usher Syndrome

Usher Syndrome (Version 1.5)

Level 2: Ophthalmological disorders

Relevant disorders: Usher syndrome, MONDO:0019501
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel was developed by RMH, and is a consensus panel used by VCGS.

Consider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.
Panel Activity

5 reviewers

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

20 Entities

20 reviewed, 16 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green List (high evidence)
ABHD12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
  • Usher syndrome type 3
Tags
Green List (high evidence)
ADGRV1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 2C, MIM# 605472
Tags
Green List (high evidence)
ARSG
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type IV, 618144
Tags
Green List (high evidence)
CDH23
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1D 601067
  • Usher syndrome, type 1D/F digenic 601067
Tags
Green List (high evidence)
CEP250
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher-like disease
  • Cone-rod dystrophy and hearing loss 2, 618358
Tags
Green List (high evidence)
CEP78
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-Rod Dystrophy and Hearing Loss, 617236
Tags
Green List (high evidence)
CLRN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 3A, 276902
  • Retinitis pigmentosa 61, 614180
Tags
Green List (high evidence)
MYO7A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 1B, 276900
Tags
Green List (high evidence)
PCDH15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome Type 1F
  • Usher syndrome, type 1D/F digenic
Tags
Green List (high evidence)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Heimler syndrome 1, 234580
Tags
Green List (high evidence)
PEX26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Heimler syndrome
Tags
Green List (high evidence)
PEX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Heimler syndrome 2, 616617
Tags
Green List (high evidence)
USH1C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1C, 276904
Tags
Green List (high evidence)
USH1G
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1G, 606943
Tags
Green List (high evidence)
USH2A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 2A, 276901
  • Retinitis pigmentosa 39, 613809
Tags
Green List (high evidence)
WHRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 2D, 611383
Tags
Amber List (moderate evidence)
PDZD7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
Tags
Red List (low evidence)
CIB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type IJ, 614869
Tags
  • refuted
Red List (low evidence)
ESPN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 1M, MIM#618632
Tags
Red List (low evidence)
HARS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome type 3B
Tags

Major version comments

  • 2021-01-05 11:08 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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