Description
This panel is used for clinical indication 'R45 Stickler syndrome' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R45 Stickler syndrome'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K


The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/3/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (01/08/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

5 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

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

10 Entities

10 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
10 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)
COL9A3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Stickler syndrome type VI
  • Mutiple Epiphyseal Dysplasia
Tags
Green Green List (high evidence)
GZF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Larsen syndrome
Tags
Amber Amber List (moderate evidence)
BMP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
LOXL3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Stickler syndrome
Tags
Amber Amber List (moderate evidence)
LRP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Tags

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