CLRN1

clarin 1
OMIM: 606397, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red CLRN1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red CLRN1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review Not set
Sources
  • Emory Genetics Laboratory
Red CLRN1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Red CLRN1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Green CLRN1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • hearing loss
    • #276902:Usher syndrome, type 3A
    • Retinitis pigmentosa 61, 614180
    Green CLRN1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    • ?Usher syndrome, type 3A, 276902
    • Retinitis pigmentosa 61, 614180
    Red CLRN1 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Usher syndrome, type 3A, 276902
    • Retinitis pigmentosa 61, 614180
    • Eye Disorders
    Red CLRN1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.171

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies
    Green CLRN1 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Usher syndrome, type 3A, 276902
    • Retinitis pigmentosa 61, 614180