USH2A

usherin
OMIM: 608400, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green USH2A in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 2A, MIM# 276901
  • Retinitis pigmentosa 39, MIM#613809

Green USH2A in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review 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

Red USH2A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review Not set
Sources
  • Emory Genetics Laboratory

Green USH2A in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.147

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 39, 613809
    • Usher syndrome, type 2A, 276901

    Green USH2A in Usher Syndrome


    Level 2: Ophthalmological disorders
    Version 1.5

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review 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 2A, 276901
    • Retinitis pigmentosa 39, 613809

    Green USH2A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 2A, 276901 (3)

    Green USH2A in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.63

    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 2A, MIM# 276901

    Green USH2A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Usher syndrome 2

    Green USH2A in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 2A, 276901 (3)

    Green USH2A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Usher Syndrome Type II MIM#276901
    Tags
    • deafness

    Green USH2A in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 2A, 276901 (3)