Pneumothorax (Version 0.11)

Description

This panel contains genes that are reported causes of familial/sporadic spontaneous pneumothorax, or conditions where spontaneous pneumothorax is a differential diagnosis.

This panel is based on the Genomics England Pneumothorax - familial v2.38 gene panel.

Panel Activity

1 reviewer

Bryony Thompson (Royal Melbourne Hospital)

17 Entities

5 reviewed, 11 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 17 Entitiess
Green Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cystic fibrosis MONDO:0009061 Tags
Green Green List (high evidence)	COL3A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050 Tags
Green Green List (high evidence)	FBN1	0 reviews	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	0 reviews	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
Green Green List (high evidence)	SERPINA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490 Emphysema due to AAT deficiency, OMIM:613490 Tags
Green Green List (high evidence)	TGFB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Loeys-Dietz syndrome 4, OMIM:614816 Pulmonary emphysema, MONDO:0004849 Tags
Green Green List (high evidence)	TGFB3	0 reviews	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	0 reviews	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	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Tuberous sclerosis-1, OMIM:191100 Lymphangioleiomyomatosis, OMIM:606690 Tags
Green Green List (high evidence)	TSC2	0 reviews	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)	CBS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Classic homocystinuria MONDO:0009352 Tags
Amber Amber List (moderate evidence)	SMAD2	0 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	0 reviews	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)	ELN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes cutis laxa, autosomal dominant 1 MONDO:0007411 Tags
Red Red List (low evidence)	FBLN5	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes cutis laxa MONDO:0016175 Tags
Red Red List (low evidence)	LTBP4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170 Tags

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