PanelApp
  1. Genes and Genomic Entities
  2. USH1C

USH1C

USH1 protein network component harmonin
OMIM: 605242, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green USH1C in Mendeliome


Version 1.3512

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1C, MIM# 276904
  • Deafness, autosomal recessive 18A, MIM# 602092

Green USH1C in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.238

2 reviews 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

Red USH1C in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review Not set
Sources
  • Emory Genetics Laboratory

Green USH1C in Usher Syndrome


Level 2: Ophthalmological disorders
Version 1.5

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Usher syndrome, type 1C, 276904

    Green USH1C in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 1C, 276904 (3)

    Green USH1C in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.82

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Usher syndrome, type 1C, MIM# 276904
    • Deafness, autosomal recessive 18A, MIM# 602092

    Green USH1C in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Usher syndrome 1

    Green USH1C in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 1C MIM# 276904, MONDO:0010171

    Green USH1C in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Usher syndrome type 1 MIM#276904
    Tags
    • deafness

    Green USH1C in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 1C MIM# 276904, MONDO:0010171