Pneumothorax - familial
Gene: COL3A1EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 10 panels
7 reviews
Sarah Leigh (Genomics England Curator)
The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 1:22 p.m. | Last Modified: 31 Jan 2023, 1:22 p.m.
Panel Version: 2.40
Eleanor Williams (Genomics England Curator)
Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be considered for changing to Both mono and biallelic following GMS review.Created: 28 Sep 2022, 10:14 p.m. | Last Modified: 28 Sep 2022, 10:14 p.m.
Panel Version: 2.38
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, type IV;Ehlers-Danlos syndrome, vascular type, 130050Created: 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)
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)
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 givenCreated: 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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ehlers-Danlos syndrome, vascular type, OMIM:130050
- OMIM
- 120180
- Clinvar variants
- Variants in COL3A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Familial cerebral small vessel disease
- Cerebral vascular malformations
- Malformations of cortical development
- Pneumothorax - familial
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_22_MOI was removed from gene: COL3A1. Tag Q3_22_expert_review was removed from gene: COL3A1.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_MOI tag was added to gene: COL3A1. Tag Q3_22_expert_review tag was added to gene: COL3A1.
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: COL3A1 were set to 26666608; 25940258; 9147885 (review); 7369469
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
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)
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/02/17 - Panel revised according to expert review, literature searches and clinical review.
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Stefan Marciniak (University of Cambridge)COL3A1 was created by [email protected]
Added New Source
Stefan Marciniak (University of Cambridge)COL3A1 was added to Familial Pneumothoraxpanel. Sources: Expert list