Genomics England
GMS Panels
Panels
Genes and Entities

COL9A3

collagen type IX alpha 3 chain
OMIM: 120270
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969, Stickler syndrome
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type VI, OMIM:620022
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Green
in Stickler syndrome
R-numbers: R45
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, MONDO:0019354