Genomics England
GMS Panels
Panels
Genes and Entities

COL9A1

collagen type IX alpha 1 chain
OMIM: 120210
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
STICKLER SYNDROME TYPE 4 614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
STICKLER SYNDROME TYPE 4, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134, Hearing loss
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134, Epiphyseal dysplasia, multiple, 6, OMIM:614135
Green
in Stickler syndrome
R-numbers: R45
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM:614134