SOX9

Red SOX9 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

Sources

• Emory Genetics Laboratory

Red SOX9 in Limb disorders

Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• Literature

Phenotypes

• Brachydactyly-anonychia
• brachydactyly-anonychia

Tags

• gene-duplication

Green SOX9 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• UKGTN

Phenotypes

• Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN)
• Campomelic dysplasia with autosomal sex reversal, 114290

Green SOX9 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Campomelic dysplasia with autosomal sex reversal 114290
• Acampomelic campomelic dysplasia 114290
• Campomelic dysplasia 114290

Green SOX9 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• PIERRE ROBIN SEQUENCE
• CAMPOMELIC DYSPLASIA

No list SOX9 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green SOX9 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• PIERRE ROBIN SEQUENCE
• CAMPOMELIC DYSPLASIA 114290

Red SOX9 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert

Green SOX9 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• UKGTN

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 SOX9 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Campomelic dysplasia with autosomal sex reversal, 114290
• Acampomelic campomelic dysplasia, 114290
• Campomelic dysplasia, 114290
• intellectual disability

Green SOX9 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Acampomelic campomelic dysplasia, 114290
• Campomelic dysplasia, 114290
• Campomelic dysplasia with autosomal sex reversal, 114290