Pneumothorax - familial

Gene: FBN1

Green List (high evidence)

FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 16 panels

4 reviews

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

Green List (high evidence)

On Royal Brompton CGGL panel (FTAAD and pneumothorax). Pneumothorax common feature of Marfan, potentially the presenting feature.
Created: 7 Nov 2019, 8:53 a.m. | Last Modified: 7 Nov 2019, 8:53 a.m.
Panel Version: 2.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on publications: added publication suggested by expert reviewer
Created: 7 Nov 2019, 3:47 p.m. | Last Modified: 7 Nov 2019, 3:47 p.m.
Panel Version: 2.15
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: FBN1; Suggested initial gene rating: Green; Evidence for inclusion: Marfan syndrome; pneumothorax common feature.; Evidence for exclusion: none given; 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: Strong link with Marfan Syndrome, with 5 - 11% of patients with the disease experiencing pneumothoraces (PMID: 25765122). Have conducted literature review with little success, however having discussed this with the clinical team, we have agreed that this should be included in the 'Green List' for this disorder.
Created: 18 Jan 2017, 1:41 p.m.

Stefan Marciniak (University of Cambridge)

Green List (high evidence)

Mutated in Marfan syndrome - a rare cause of pneumothorax that should be identified during prescreening (if phenotype suggests)
Created: 8 Sep 2016, 3:22 p.m.

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

Phenotypes
Marfan syndrome

Publications

History Filter Activity

7 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FBN1 were changed from Marfan syndrome to Marfan syndrome, 154700

7 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FBN1 were set to 12598898; 15161620; 11786720; 1864149; 2595640

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FBN1. 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.

9 Feb 2017, Gel status: 4

Upload gene information

Olivia Niblock (Genomics England Curator)

FBN1 was added to Familial Pneumothoraxpanel. Sources: Eligibility statement prior genetic testing

25 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).

18 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

Added New Source

Stefan Marciniak (University of Cambridge)

FBN1 was added to Familial Pneumothoraxpanel. Sources: Expert list

8 Sep 2016, Gel status: 0

Created

Stefan Marciniak (University of Cambridge)

FBN1 was created by [email protected]