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  2. Stickler syndrome
The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Stickler syndrome (Version 4.5)

Level 2: Ophthalmology

Relevant disorders: R45
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v4.0 (22 Mar 2023)
Previously signed off versions: v3.0, v2.2
Previous code: 554a0ac9bb5a167e4ccd1ec1
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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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
Panel Activity

12 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • martin snead (University of Cambridge)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

11 Entities

11 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green List (high evidence)
BMP4
6 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Stickler syndrome, MONDO:0019354
Tags
Green List (high evidence)
COL11A1
3 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, OMIM:604841
  • Marshall syndrome, OMIM:154780
Tags
Green List (high evidence)
COL11A2
5 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150
Tags
Green List (high evidence)
COL2A1
4 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, OMIM:108300
Tags
Green List (high evidence)
COL9A1
3 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
  • Stickler syndrome, type IV, OMIM:614134
Tags
Green List (high evidence)
COL9A2
3 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
  • Stickler syndrome, type V, OMIM:614284
Tags
Green List (high evidence)
COL9A3
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Stickler syndrome, MONDO:0019354
Tags
Green List (high evidence)
GZF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Larsen syndrome, MONDO:0007875
Tags
Green List (high evidence)
VCAN
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ocular-only Stickler syndrome
  • Wagner syndrome 1, OMIM:143200
Tags
Amber List (moderate evidence)
LOXL3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Stickler syndrome, MONDO:0019354
Tags
Red List (low evidence)
LRP2
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Stickler syndrome, MONDO:0019354
Tags

Major version comments

  • 2023-03-22 15:38 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 4.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

    2022-11-30 15:26 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

    2019-08-01 09:23 Ivone Leong (Genomics England Curator) promoted panel to 2.0
    The content of this panel (version 1.32) was signed off under NHS Genomic Medicine Service governance on (01/08/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

    17.12.15 Approved for Version 1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

Download Version