Pneumothorax - familial

Gene: COL3A1

Green List (high evidence)

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 11 panels

5 reviews

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.
Panel Version: 2.22

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

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.
Panel Version: 2.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM 130050 Ehlers-Danlos syndrome, vascular type

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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)

Green List (high evidence)

Mutated in Ehlers-Danlos, type IV
Created: 8 Sep 2016, 3:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ehlers-Danlos Syndrome, type IV

Publications

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

17 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COL3A1 were set to 26666608; 25940258; 9147885 (review); 7369469

27 Sep 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV to Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

09/02/17 - Panel revised according to expert review, literature searches and clinical review.

17 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Sep 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

8 Sep 2016, Gel status: 0

Created

Stefan Marciniak (University of Cambridge)

COL3A1 was created by [email protected]

8 Sep 2016, Gel status: 0

Added New Source

Stefan Marciniak (University of Cambridge)

COL3A1 was added to Familial Pneumothoraxpanel. Sources: Expert list