WHRN

whirlin
OMIM: 607928, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green WHRN in ClinGen Gene Validity Curations


Version 0.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Usher syndrome type 2D

Red WHRN in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.8

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red WHRN in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

Red WHRN in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Red WHRN in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.9
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green WHRN in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.37
    Signed off v.2.5 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • #607084:Deafness, autosomal recessive 31
    • #611383:Usher syndrome, type 2D
    • hearing loss
    • Nonsyndromic Hearing Loss, Recessive

    Green WHRN in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.14
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders

    Red WHRN in Structural eye disease


    Version 1.9
    Signed off v.1.3 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Usher syndrome, type 2D, 611383
    • Eye Disorders

    Red WHRN in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.125

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies