PanelApp
  1. Panels
  2. Pneumothorax
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

2 reviewers

  • Bryony Thompson (Royal Melbourne Hospital)

  • Sangavi Sivagnanasundram (Melbourne Health)

18 Entities

18 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
18 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
1 review
1 green 		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
1 review
1 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
1 review
1 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
Green Green List (high evidence)
IPO8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome MONDO:0018954
Tags
Green Green List (high evidence)
SERPINA1
1 review
1 green 		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)
SMAD2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome,MONDO:0018954
Tags
Green Green List (high evidence)
SMAD3
2 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 3, OMIM:613795
Tags
Green Green List (high evidence)
TGFB2
1 review
 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
2 reviews
1 red 		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
2 reviews
1 red 		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
1 review
1 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
1 review
 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
1 review
 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
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

Major version comments

Downloads

Download lists

Download Version