PanelApp (staging)
  1. Panels
  2. Pulmonary Fibrosis_Interstitial Lung 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 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 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 Green List (high evidence)
AP3B1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ASAH1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 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 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 Green List (high evidence)
CSF2RA
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CSF2RB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DKC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 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 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 Green List (high evidence)
FAM111B
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 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 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 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 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 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 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 Green List (high evidence)
GBA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPS1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPS4
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 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 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 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 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 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 Green List (high evidence)
PARN
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 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 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 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 Green List (high evidence)
SFTPA2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SFTPB
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SFTPC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC34A2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC7A7
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMPD1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TERC
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TERT
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TINF2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 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 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 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 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

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