1. Panels
  2. Pulmonary Fibrosis_Interstitial Lung Disease

Pulmonary Fibrosis_Interstitial Lung Disease (Version 0.84)

Level 2: Respiratory disorders

Relevant disorders: Pulmonary fibrosis, HP:0002206; Abnormal pulmonary interstitial morphology, HP:0006530
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel was developed and is maintained by VCGS.

Depending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.
Panel Activity

10 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Sue White (Victorian Clinical Genetics Services)

  • Tiong Tan (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Eleanor Williams (Genomics England)

  • Chirag Patel (Genetic Health Queensland)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

49 Entities

48 reviewed, 47 green

List Entity Reviews Mode of inheritance Details
49 Entitiess
Green List (high evidence)
ABCA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921
Tags
Green List (high evidence)
AFF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • CHOPS syndrome, MIM# 616368
Tags
Green List (high evidence)
AP3B1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • clinical trial
  • treatable
Green List (high evidence)
ASAH1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CCBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Tags
Green List (high evidence)
CFTR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cystic fibrosis, MIM# 219700
Tags
Green List (high evidence)
COPA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414
Tags
Green List (high evidence)
CSF2RA
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CSF2RB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DKC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DOCK8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700
  • Childhood bronchiectasis
Tags
Green List (high evidence)
EFEMP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IB MIM# 614437
Tags
Green List (high evidence)
ELN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal dominant, MIM# 123700
Tags
Green List (high evidence)
FAM111B
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FARSA
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Tags
Green List (high evidence)
FARSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rajab syndrome, MIM#613658
  • interstitial lung disease
  • brain calcifications
  • microcephaly
  • intellectual disability
Tags
Green List (high evidence)
FAT4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hennekam Syndrome, MIM# 235510
  • childhood pulmonary lymphangiectasia
Tags
Green List (high evidence)
FBLN5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IA, MIM# 219100
  • childhood-onset emphysema
Tags
Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Marfan syndrome, MIM# 154700
  • neonatal
Tags
Green List (high evidence)
FLNA
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Interstitial lung disease
Tags
Green List (high evidence)
FOXF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Tags
Green List (high evidence)
GBA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HPS1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HPS4
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ITGA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Tags
Green List (high evidence)
MARS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Interstitial lung and liver disease, MIM#615486
Tags
  • new gene name
Green List (high evidence)
NAF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365
Tags
Green List (high evidence)
NHLRC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Tags
Green List (high evidence)
NKX2-1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Tags
Green List (high evidence)
OAS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Tags
Green List (high evidence)
PARN
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
POLA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Telomere biology syndrome MONDO:0100137
Tags
Green List (high evidence)
RPA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
  • Bone marrow failure
  • T- and B-cell lymphopaenia
  • pulmonary fibrosis
  • skin manifestations
  • short telomeres
Tags
Green List (high evidence)
RTEL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Tags
Green List (high evidence)
SFTPA1
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Idiopathic pulmonary fibrosis
  • Interstitial lung disease 1, MIM# 619611
Tags
Green List (high evidence)
SFTPA2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SFTPB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SFTPC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC34A2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC7A7
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SMPD1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TERC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TERT
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TINF2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TMEM173
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset, MIM# 615934
Tags
Green List (high evidence)
WFDC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bronchiectasis and nasal polyposis, MIM# 620984
Tags
  • founder
Green List (high evidence)
ZCCHC8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Tags
Amber List (moderate evidence)
ACD
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Tags
Red List (low evidence)
ARHGAP42
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Interstitial lung disease
  • systemic hypertension
  • immunological abnormalities
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

Download Version