Note: This panel has been superseded by Ehlers-Danlos syndromes panel. Inclusion Criteria Presumed Kyphoscoliotic Ehlers Danlos Syndrome with no genetic diagnosis with two or more of the following features: • Significant Joint hypermobility and dislocations • Skin fragility and hyperextensibility • Kyphoscoliosis • Increased length at birth with wrist drop • Muscular hypotonia • Criss-cross lines on palm and soles • Hearing impairment • Ocular fragility Exclusion Criteria • Known genetic aetiology • Kyphoscoliosis as part of an underlying genetic / syndromal diagnosis • Symptomatic joint hypermobility without additional confirmed diagnostic features such as kyphoscoliosis Prior Genetic Testing: - Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype. - Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND - Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND - The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: • PLOD1 • If seen in Specialist EDS Centres (London/ Sheffield): Kyphoscoliotic targeted gene panel These requirements will be kept under continual review during the main programme and may be subject to change.
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Group: GeCIP domain
Workplace: NHS diagnostic lab
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Green List (high evidence) |
CHST14 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Green List (high evidence) |
FKBP14 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Green List (high evidence) |
PLOD1 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
06 June 2016: panel was reviewed and revised according to expert review and additional evidence. Was promoted to version 1.