Pneumothorax - familial (Version 3.5)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R190 Pneumothorax - familial' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R190 Pneumothorax - familial'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

10 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Stefan Marciniak (University of Cambridge)

Group: GeCIP domain
Workplace: Research lab
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Benjamin Raby (Brigham and Women's Hospital, Harvard Medical School)

Group: Other
Workplace: Other clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other

35 Entities

35 reviewed, 10 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 35 Entitiess
Green Green List (high evidence)	COL3A1	7 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050 Tags
Green Green List (high evidence)	FBN1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list Expert Review Green NHS GMS Phenotypes Marfan syndrome, OMIM:154700 Tags
Green Green List (high evidence)	FLCN	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pneumothorax, primary spontaneous, OMIM:173600 Birt-Hogg-Dube Syndrome, OMIM:135150 Tags deletions
Green Green List (high evidence)	SERPINA1	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Emphysema due to AAT deficiency, OMIM:613490 Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490 Tags
Green Green List (high evidence)	TGFB2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Pulmonary emphysema, MONDO:0004849 Loeys-Dietz syndrome 4, OMIM:614816 Tags
Green Green List (high evidence)	TGFB3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Pulmonary emphysema, MONDO:0004849 Loeys-Dietz syndrome 5, OMIM:615582 Tags
Green Green List (high evidence)	TGFBR1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Pulmonary emphysema, MONDO:0004849 Loeys-Dietz syndrome 1, OMIM:609192 Tags
Green Green List (high evidence)	TGFBR2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Pulmonary emphysema, MONDO:0004849 Loeys-Dietz syndrome type 2, OMIM:610168 Tags
Green Green List (high evidence)	TSC1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Lymphangioleiomyomatosis, OMIM:606690 Tuberous sclerosis-1, OMIM:191100 Tags
Green Green List (high evidence)	TSC2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Lymphangioleiomyomatosis, MONDO:0011705 Tuberous sclerosis-2, OMIM:613254 Tags
Amber Amber List (moderate evidence)	SMAD2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Loeys-Dietz syndrome,MONDO:0018954 Tags
Amber Amber List (moderate evidence)	SMAD3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Phenotypes Pulmonary emphysema, MONDO:0004849 Loeys-Dietz syndrome type 3, OMIM:613795 Tags
Red Red List (low evidence)	ACTA2	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	ADAMTS2	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	ALDH18A1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cutis laxa, autosomal dominant 3 Cutis laxa, autosomal recessive, type IIIA Tags
Red Red List (low evidence)	ATP6V0A2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cutis laxa, 219200 Tags
Red Red List (low evidence)	ATP7A	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Menkes Disease Tags
Red Red List (low evidence)	BTNL2	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	CHST14	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	COL5A1	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	EFEMP2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cutis laxa Tags
Red Red List (low evidence)	ELN	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red NHS GMS Phenotypes Cutis laxa Tags
Red Red List (low evidence)	FBLN5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cutis laxa Tags
Red Red List (low evidence)	FOXE3	1 review 1 red	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	HLA-DRB1	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	HRAS	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	LOX	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	LTBP4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cutis laxa Tags
Red Red List (low evidence)	MFAP5	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	MTHFR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Homocytinuria Tags
Red Red List (low evidence)	MYH11	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	MYLK	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	PRKG1	1 review	Not set	Sources NHS GMS Tags
Red Red List (low evidence)	PYCR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cutis laxa Tags
Red Red List (low evidence)	SLC25A24	1 review	Not set	Sources NHS GMS Phenotypes Fontaine progeroid syndrome, OMIM 612289 Fontaine progeroid syndrome, MONDO:0012853 Tags

Major version comments

2023-03-22 16:01 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-11-05 15:11 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.18) was signed off under NHS Genomic Medicine Service governance on (05/11/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

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

Pneumothorax - familial (Version 3.5)

10 reviewers

35 Entities

35 reviewed, 10 green

7 reviews

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2 reviews