Genomics England
GMS Panels
Panels
Genes and Entities

SOX9

SRY-box 9
OMIM: 608160
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Orofacial Clefting with Skeletal Features, Cleft palate with skeletal abnormalities, CAMPOMELIC DYSPLASIA,114290, Acampomelic campomelic dysplasia, 114290, Campomelic dysplasia with autosomal sex reversal, 114290, CAMPOMELIC DYSPLASIA, Cleft palate
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PIERRE ROBIN SEQUENCE, CAMPOMELIC DYSPLASIA 114290
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN), Campomelic dysplasia with autosomal sex reversal, 114290
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PIERRE ROBIN SEQUENCE, CAMPOMELIC DYSPLASIA
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Campomelic dysplasia with autosomal sex reversal, 114290, Acampomelic campomelic dysplasia, 114290, Campomelic dysplasia, 114290, intellectual disability
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Campomelic dysplasia with autosomal sex reversal 114290, Acampomelic campomelic dysplasia 114290, Campomelic dysplasia 114290