USH1C

USH1 protein network component harmonin
OMIM: 605242, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green USH1C in ClinGen Gene Validity Curations


Version 0.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Usher Syndrome, Type 1
  • OrphaNet ORPHA231169
  • OMIM276904
Red USH1C in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red USH1C in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.19

review Not set
Sources
  • Emory Genetics Laboratory
Red USH1C in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.41

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Red USH1C in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Green USH1C in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Nonsyndromic Hearing Loss, Recessive
    • Acadian and Samaritan variety Usher syndrome, type 1C, 276904
    • hearing loss
    • Deafness, autosomal recessive 18A, 602092
    Green USH1C in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    Red USH1C in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Deafness, autosomal recessive 18A, 602092
    • Usher syndrome type 1C, 276904
    • Eye Disorders
    Red USH1C in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.169

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies
    Green USH1C in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 18A, 602092
    • Usher syndrome, type 1C, 276904