Genomics England
GMS Panels
Panels
Genes and Entities

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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Axial Spondylometaphyseal Dysplasia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Axial Spondylometaphyseal Dysplasia
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jeune asphyxiating thoracic dystrophy (JATD), Jeune Syndrome, Spondylometaphyseal dysplasia, axial, 602271, Retinal dystrophy with macular staphyloma, 617547
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy with macular staphyloma, 617547
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jeune asphyxiating thoracic dystrophy (JATD), Jeune Syndrome, Spondylometaphyseal dysplasia, axial, 602271, Retinal dystrophy with macular staphyloma, 617547
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia, axial 602271, Axial Spondylometaphyseal Dysplasia 602271