COL3A1
SERPINA1 5
ADAMTS2 1
BTNL2 1
EFEMP2 2
LOX 1
MFAP5 1
MYLK 1
PRKG1 1
Gene: COL3A1
COL3A1 (collagen type III alpha 1 chain)
COL3A1 is in 11 panels
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, type IV;Ehlers-Danlos syndrome, vascular type, 130050
Created: 17 Mar 2021, 2:10 p.m. | Last Modified: 17 Mar 2021, 2:10 p.m.
Created: 17 Mar 2021, 2:10 p.m.
Last Modified: 17 Mar 2021, 2:10 p.m.
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton pneumothorax diagnostic panel. Pneumothorax is a minor diagnostic criteria in vEDS, therefore, although unlikely to be the presenting feature, COL3A1 appropriate for inclusion here.
Created: 22 Sep 2019, 8:35 p.m. | Last Modified: 8 Nov 2019, 11:28 a.m.
OMIM 130050 Ehlers-Danlos syndrome, vascular type
Variants in this GENE are reported as part of current diagnostic practice
Created: 22 Sep 2019, 8:35 p.m.
Last Modified: 8 Nov 2019, 11:28 a.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: COL3A1; Suggested initial gene rating: Green; Evidence for inclusion: Vascular EDS; pneumothorax reported.; Evidence for exclusion: Somewhat syndromic but can be later onset/less clinically distinct than other forms.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:37 p.m.
Olivia Niblock (Genomics England Curator)
Comment on list classification: After literature search, found 8 separate cases describing pneumothoraces in Ehlers-Danlos cases, with COL3A1 mutations in all cases being given as the cause. Cases found novel mutations and exon skipping in gene.
PMIDs: 20301667, 24591672, 22610159, 19420820, 21533953, 19543901,18779970,11168790
Created: 17 Jan 2017, 2:34 p.m.
Stefan Marciniak (University of Cambridge)
Mutated in Ehlers-Danlos, type IV
Ehlers-Danlos Syndrome, type IV
9147885 (review)
Created: 18 Oct 2016, 8:23 a.m.
Ehlers-Danlos syndrome, vascular type, OMIM:130050
Variants in COL3A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Bleeding and platelet disorders
Familial cerebral small vessel disease
17 Mar 2021, Gel status: 3
Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Publications for gene: COL3A1 were set to 26666608; 25940258; 9147885 (review); 7369469
27 Sep 2019, Gel status: 3
Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV to Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050
Source NHS GMS was added to COL3A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
9 Feb 2017, Gel status: 4
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
17 Jan 2017, Gel status: 4
Approved Gene
This proposed gene was validated and added to this panel
COL3A1 was created by [email protected]
COL3A1 was added to Familial Pneumothoraxpanel. Sources: Expert list