USH2A

usherin
OMIM: 608400, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green USH2A in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2A, MIM# 276901

Green USH2A in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

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

Green USH2A in Usher Syndrome


Level 2: Ophthalmological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2A, 276901
  • Retinitis pigmentosa 39, 613809

Green USH2A in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

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

Green USH2A in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2A, MIM# 276901

Green USH2A in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2A, MIM#276901

Green USH2A in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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

Green USH2A in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2A, MIM#276901