Thoracic aortic aneurysm or dissection

Gene: PLOD1

Green List (high evidence)

225400 Kyphoscoliotic Ehlers-Danlos syndrome

Created: 25 Mar 2019, 4:30 p.m.

Abdalla et al 2015 Eur J Pediatr 174:105 PMID:25277362 characterised nonsense and a relatively commonly reported large in-frame duplication p.Glu326_Lys585dup (entire exons 10-16 of 19 exon gene) in Egyptian patients with Kyphoscoliotic EDS and found segregation with disease in 6 affected individuals from 4 families (abstract only)

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.

Created: 20 Feb 2019, 2:17 p.m.

Green List (high evidence)

Comment when marking as ready: Sufficient cases, relevant phenotype

Created: 26 Jul 2017, 8:40 a.m.

Comment on list classification: Promoted to green in view of two positive reviews

Created: 26 Jul 2017, 8:40 a.m.

Sufficient unrelated cases to confirm the gene-disease relationship. Affected individuals are Marfanoid with a connective tissue phenotype, of which arterial rupture is reported. Appropriate for inclusion on both the EDS syndromes panel and FTAAD panel.

Created: 26 Jul 2017, 8:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, type VI 225400

Publications

• 15666309

PLOD1 gene added to FTAAD panel as advised by reviewer of the Ehlers-Danlos syndrome (EDS) panel, Neeti Ghali.

Created: 25 Jul 2017, 2:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, type VI, 225400; kyphoscoliotic EDS