Pneumothorax - familial
Gene: COL3A1The 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
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
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
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
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.
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.
Tag Q3_22_MOI was removed from gene: COL3A1. Tag Q3_22_expert_review was removed from gene: COL3A1.
Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_MOI tag was added to gene: COL3A1. Tag Q3_22_expert_review tag was added to gene: COL3A1.
Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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)
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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