Description
Stickler syndrome inclusion criteria (29717)
3 or more of:

- Cleft palate
- Characteristic  retinal or vitreous changes
- High frequency sensorineural hearing loss
- Characteristic facial features (malar hypoplasia, broad or flat nasal bridge, and micro/retrognathia)
- Musculoskeletal features: femoral head failure (slipped epiphysis or Legg-Perthes-like disease), radiographically demonstrated osteoarthritis before age 40, scoliosis, spondylolisthesis, Scheuermann-like kyphotic deformity or joint hypermobility

Stickler syndrome exclusion criteria (29717)

Prior genetic testing guidance (29717)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Stickler syndrome prior genetic testing genes (29717)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - COL2A1, COL11A1

Closing statement (29717)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • allan richards (University of Cambridge)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

8 Entities

8 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green Green List (high evidence)
COL11A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type II, 604841
  • Retinitis pigmentosa 45, 613767
  • Achromatopsia-3, 262300{Autism susceptibility 15}, 612100
  • Marshall syndrome, 154780
  • {Lumbar disc herniation, susceptibility to}, 603932
  • Fibrochondrogenesis, 228520
Tags
Green Green List (high evidence)
COL11A2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Stickler Syndrome, Dominant
  • Stickler syndrome, type III, 184840
  • Otospondylomegaepiphyseal dysplasia, 215150
  • Weissenbacher-Zweymuller syndrome, 277610
  • Deafness, autosomal dominant 13, 601868
  • Deafness, autosomal recessive 53, 609706
  • Fibrochondrogenesis 2, 614524
Tags
Green Green List (high evidence)
COL2A1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Stickler syndrome, type I, 108300
  • Kniest dysplasia, 156550
  • Achondrogenesis, type II or hypochondrogenesis, 200610
  • SED congenita, 183900
  • SMED Strudwick type, 184250
  • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Tags
Green Green List (high evidence)
COL9A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 6, 614135
  • Stickler syndrome, type IV, 614134
  • Stickler Syndrome, Recessive
Tags
Green Green List (high evidence)
COL9A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 2, 600204
  • {Intervertebral disc disease, susceptibility to}, 603932
  • Stickler syndrome, type V, 614284
Tags
Green Green List (high evidence)
GZF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Larsen syndrome
Tags
Red Red List (low evidence)
COL9A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Stickler syndrome type VI
  • Mutiple Epiphyseal Dysplasia
Tags
Red Red List (low evidence)
LOXL3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Stickler syndrome
Tags

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