Genomics England
GMS Panels
Panels
Genes and Entities

COL9A2

collagen type IX alpha 2 chain
OMIM: 120260
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204, STICKLER SYNDROME, TYPE V 614284
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2, STICKLER SYNDROME, TYPE V
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, OMIM:614284
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, OMIM:614284
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, OMIM:614284, Epiphyseal dysplasia, multiple, 2, OMIM:600204
Green
in Stickler syndrome
R-numbers: R45
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, OMIM:614284