C21orf2

chromosome 21 open reading frame 2
OMIM: 603191
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Axial Spondylometaphyseal Dysplasia
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Axial Spondylometaphyseal Dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jeune asphyxiating thoracic dystrophy (JATD), Jeune Syndrome, Spondylometaphyseal dysplasia, axial, 602271, Retinal dystrophy with macular staphyloma, 617547
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with macular staphyloma, 617547
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jeune asphyxiating thoracic dystrophy (JATD), Jeune Syndrome, Spondylometaphyseal dysplasia, axial, 602271, Retinal dystrophy with macular staphyloma, 617547
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia, axial 602271, Axial Spondylometaphyseal Dysplasia 602271