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'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

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

The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/105/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (05/11/2019).

This panel will continue to be curated. 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 for the GMS panels.

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Olivia Niblock (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

35 Entities

35 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green Green List (high evidence)
COL3A1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ehlers-Danlos Syndrome, type IV
  • Ehlers-Danlos syndrome, vascular type, 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, 154700
Tags
Green Green List (high evidence)
FLCN
4 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
  • Primary Spontaneous Pneumothorax, 173600
  • Birt-Hogg-Dube Syndrome, 135150
  • Birt-Hogg-Dube syndrome
  • Spontaneous Pneumothorax
  • Birt-Hogg-Dube Syndrome
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
  • Emphysema-cirrhosis, due to AAT deficiency
  • Emphysema/cirrhosis due to AAT deficiency, 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
  • Loeys-Dietz syndrome
  • Pulmonary emphysema
  • Loeys-Dietz syndrome 4, 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
  • Loeys-Dietz syndrome
  • Pulmonary emphysema
  • Loeys-Dietz syndrome 5, 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
  • Loeys-Dietz syndrome
  • Pulmonary emphysema
  • Loeys-Dietz syndrome 1, 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
  • Loeys-Dietz syndrome
  • Pulmonary emphysema
  • Loeys-Dietz syndrome type 2, 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 (LAM)
  • Tuberous sclerosis complex (TSC)
  • Lymphangioleiomyomatosis
  • Tuberous sclerosis 1, 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 (LAM)
  • Tuberous sclerosis complex (TSC)
  • Lymphangioleiomyomatosis
  • Tuberous sclerosis 2, 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
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
  • Loeys-Dietz syndrome
  • Pulmonary emphysema
  • Loeys-Dietz syndrome type 3, 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
Tags

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