Ehlers Danlos syndrome with a likely monogenic cause

Gene: SLC2A10

Red List (low evidence)

There is a clear gene-disease association but in view of the relatively discrete vascular phenotype, this gene would be best placed on the FTAAD panel rather than as a differential diagnosis for those with connective tissue disease. Those with a vascular phenotype in addition would be offered the FTAAD panel in addition. D/W Neeti Ghali, EDS Specialist Clinic who is in agreement.

Created: 25 Jul 2017, 1:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Green List (high evidence)

Differential for EDS. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.

Created: 7 Jul 2017, 6:29 p.m.

Comment on mode of inheritance: updated MOI

Created: 26 Jul 2017, 2:23 p.m.

Comment on phenotypes: Removed 'Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders' as this comes from the name of the sequencing panel from EGL Genetics. Gene on panel due to associated clinical phenotypes of Joint laxity and Hyperextensibility of the skin, need to check with clinical team team if this gene should remain on this panel based on update to eligibility statement.

Created: 4 May 2017, 9:07 a.m.