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
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 (Genomics England Curator)
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
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Green List (high evidence) |
BMP4 |
6 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
COL11A1 |
3 reviews1 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
COL11A2 |
5 reviews1 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
COL2A1 |
4 reviews |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
COL9A1 |
3 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
COL9A2 |
3 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
COL9A3 |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GZF1 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
VCAN |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
LOXL3 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
LRP2 |
3 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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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.