C21orf2

chromosome 21 open reading frame 2
OMIM: 603191, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green C21orf2 in Thoracic dystrophies

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Jeune/Axial Spondylomethaphyseal dysplasia
  • Axial Spondylometaphyseal Dysplasia 602271
Tags
  • new-gene-name
Green C21orf2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Spondylometaphyseal dysplasia, axial 602271
    • Axial Spondylometaphyseal Dysplasia 602271
    Tags
    • new-gene-name
    Green C21orf2 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Axial Spondylometaphyseal Dysplasia
    Tags
    • new-gene-name
    Green C21orf2 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Axial Spondylometaphyseal Dysplasia
    Tags
    • new-gene-name
    Green C21orf2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.11
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Retinal dystrophy with macular staphyloma, 617547
    Tags
    • new-gene-name
    Green C21orf2 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Jeune asphyxiating thoracic dystrophy (JATD)
    • Retinal dystrophy with macular staphyloma, 617547
    • Spondylometaphyseal dysplasia, axial, 602271
    • Jeune Syndrome
    Tags
    • new-gene-name
    Green C21orf2 in Ophthalmological ciliopathies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Jeune asphyxiating thoracic dystrophy (JATD)
    • Jeune Syndrome
    • Spondylometaphyseal dysplasia, axial, 602271
    • Retinal dystrophy with macular staphyloma, 617547
    Tags
    • new-gene-name
    Green C21orf2 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Jeune asphyxiating thoracic dystrophy (JATD)
    • Jeune Syndrome
    • Spondylometaphyseal dysplasia, axial, 602271
    • Retinal dystrophy with macular staphyloma, 617547
    Tags
    • new-gene-name
    Red C21orf2 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    • Expert Review Red
    • London North GLH
    Tags
    • new-gene-name
    Green C21orf2 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondylometaphyseal dysplasia, axial, 602271
    • Retinal dystrophy with macular staphyloma, 617547
    Tags
    • new-gene-name