Description
Familial Pulmonary Fibrosis eligibility statement

Familial pulmonary fibrosis inclusion criteria (33493)
•	Clinical syndrome consistent with interstitial lung disease: Breathlessness on exertion or cough, bilateral crepitations on examination, 
AND 
•	A High Resolution CT Scan with evidence of interstitial lung disease, AND 
•	A first degree relative with an interstitial lung disease

Familial pulmonary fibrosis exclusion criteria (33493)
•	A respiratory disease other than an interstitial lung disease 
•	Any cystic lung disease

Prior genetic testing guidance (33493)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Familial pulmonary fibrosis prior genetic testing genes (33493)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 SFTPB, SFTPC in childhood onset cases

Closing statement (33493)
These requirements will be kept under continual review during the main programme and may be subject to change.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Philip Molyneaux (Imperial College)

    Group: Other
    Workplace: NHS clinical service

71 genes

71 reviewed, 23 green

List Gene Reviews Mode of inheritance Details
71 genes
Green Green List (high evidence)
ABCA3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921
Tags
  • non-coding-known-pathogenic
Green Green List (high evidence)
AP3B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Hermansky-Pudlak syndrome 2, 608233
  • Pulmonary Disease
  • Pulmonary fibrosis
Green Green List (high evidence)
ASAH1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Farber lipogranulomatosis, 228000
Green Green List (high evidence)
CSF2RA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, 300770
  • Pulmonary alveolar proteinosis
Green Green List (high evidence)
CSF2RB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
  • Pulmonary alveolar proteinosis
Green Green List (high evidence)
DKC1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Dyskeratosis congenita, X-linked, 305000
  • Dyskeratosis congenita associated with pulmonary fibrosis
Green Green List (high evidence)
FAM111B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704
Green Green List (high evidence)
GBA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
Phenotypes
  • Gaucher disease, type I, 230800
  • Gaucher disease with associated Pulmonary Fibrosis
Green Green List (high evidence)
HPS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome 1, 203300
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Pulmonary Disease
  • Hermansky-Pudlak Syndrome type 1 associated with pulmonary fibrosis
Green Green List (high evidence)
HPS4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome, 4, 614073
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Pulmonary Disease
  • Hermansky-Pudlak Syndrome type 4, associated with pulmonary fibrosis
Green Green List (high evidence)
ITGA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748
Green Green List (high evidence)
NKX2-1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
  • Associated with pulmonary fibrosis, but strong recurrent infection signal
Green Green List (high evidence)
PARN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371
Green Green List (high evidence)
RTEL1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373
Green Green List (high evidence)
SFTPA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary fibrosis, idiopathic, 178500
Green Green List (high evidence)
SFTPB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, 265120
Green Green List (high evidence)
SFTPC
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, 610913
  • Interstitial Lung Disease
  • Pulmonary alveolar proteinosis
Green Green List (high evidence)
SLC34A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Pulmonary alveolar microlithiasis, 265100
Green Green List (high evidence)
SLC7A7
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Lysinuric protein intolerance, 222700
Green Green List (high evidence)
SMPD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease, type A 257200
  • Niemann-Pick disease, type B 607616
Green Green List (high evidence)
TERC
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743
Tags
  • locus-type-rna-misc
Green Green List (high evidence)
TERT
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742
  • Familial Pulmonary Fibrosis
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Pulmonary Disease
Green Green List (high evidence)
TINF2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dyskeratosis congenita, autosomal dominant, 3, 613990
  • Associated with dyskeratosis congenita and Fibrosis
Amber Amber List (moderate evidence)
CASR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Hypocalciuric hypercalcemia, type I, 145980
Red Red List (low evidence)
ACVRL1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2
Red Red List (low evidence)
ASCL1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Central hypoventilation syndrome, congenital
Red Red List (low evidence)
BDNF
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Central hypoventilation syndrome, congenital
Red Red List (low evidence)
BLOC1S3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 8, 614077
Red Red List (low evidence)
BLOC1S6
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-pudlak syndrome 9, 614171
Red Red List (low evidence)
BMPR2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
  • Pulmonary venoocclusive disease 1
Red Red List (low evidence)
CCDC39
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliary dyskinesia, primary, 14
Red Red List (low evidence)
CCDC40
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Ciliary dyskinesia, primary, 15
Red Red List (low evidence)
CFTR
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Cystic fibrosis
Red Red List (low evidence)
DNAAF1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
DNAAF2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
DNAH11
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
DNAH5
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
DNAI1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
DNAI2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
DNAL1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
DOCK8
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
DTNBP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome 7 614076
Red Red List (low evidence)
EDN3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
EFEMP2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
ELMOD2
2 reviews
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Pulmonary Disease
Red Red List (low evidence)
ELN
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
ENG
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
FBLN5
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
FLCN
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
GDNF
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
HPS3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome 3 614072
Tags
  • founder-effect
Red Red List (low evidence)
HPS5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome 5 614074
Red Red List (low evidence)
HPS6
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome 6 614075
Red Red List (low evidence)
LTBP4
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
MUC5B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500
Tags
  • promoter
Red Red List (low evidence)
NF1
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurofibromatosis, type 1 162200
Red Red List (low evidence)
NME8
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
PHOX2B
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
RET
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
RSPH4A
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
RSPH9
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
SCNN1A
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
SCNN1B
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
SCNN1G
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
SERPINA1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
SFTPA1
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500
  • familial idiopathic pulmonary fibrosis
Red Red List (low evidence)
SFTPD
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Red Red List (low evidence)
SMAD9
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
STAT3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red Red List (low evidence)
TSC1
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Tuberous sclerosis-1 191100
Red Red List (low evidence)
TSC2
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Tuberous sclerosis-2 613254

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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