WHRN:Ensemblv115

whirlin
OMIM: 607928, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green WHRN 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 2D, MIM# 611383
  • Deafness, autosomal recessive 31, MIM# 607084

Green WHRN in Usher Syndrome


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2D, 611383

Green WHRN 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 2D, 611383 (3)

Green WHRN 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 2D, MIM# 611383
  • Deafness, autosomal recessive 31, MIM# 607084

Green WHRN 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 2D, MIM#611383

Green WHRN in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2D, MIM# 611383
  • Deafness, autosomal recessive 31, MIM# 607084
Tags
  • deafness

Green WHRN 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 2D MIM#611383