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  2. Childhood interstitial lung disease

Childhood interstitial lung disease (Version 0.9)

Level 2: Respiratory

Relevant disorders: R462
Panel types: GMS Rare Disease Virtual, GMS Rare Disease
Description
THIS PANEL IS CURRENTLY UNDER DEVELOPMENT.

This panel is used for clinical indication 'R462 Childhood interstitial lung disease' 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 'R462 Childhood interstitial lung disease'.

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated version number.

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.
Panel Activity

1 reviewer

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

35 Entities

35 reviewed, 34 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green List (high evidence)
ABCA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • interstitial lung disease due to ABCA3 deficiency, MONDO:0012582
  • Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921
Tags
Green List (high evidence)
BMPR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600
  • pulmonary hypertension, primary, 1, MONDO:0024533
  • Pulmonary venoocclusive disease 1, OMIM:265450
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600
  • pulmonary venoocclusive disease 1, MONDO:0020713
Tags
Green List (high evidence)
COPA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • autoimmune interstitial lung disease-arthritis syndrome, MONDO:0014629
  • {Autoinflammation and autoimmunity, systemic, with immune dysregulation 1}, OMIM:616414
Tags
Green List (high evidence)
CSF2RA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770
  • surfactant metabolism dysfunction, pulmonary, 4, MONDO:0010424
Tags
  • Pseudoautosomal region 1
Green List (high evidence)
CSF2RB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370
  • surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712
Tags
Green List (high evidence)
FARSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013
  • Rajab interstitial lung disease with brain calcifications 2, MONDO:0100220
Tags
Green List (high evidence)
FARSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Rajab interstitial lung disease with brain calcifications 1, OMIM:613658
  • Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215
Tags
Green List (high evidence)
FLNA
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • heterotopia, periventricular, X-linked dominant, MONDO:0010233
  • Heterotopia, periventricular, 1, OMIM:300049
Tags
Green List (high evidence)
FOXF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380
  • alveolar capillary dysplasia with misalignment of pulmonary veins, MONDO:0009934
Tags
Green List (high evidence)
GATA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency 21, OMIM:614172
  • monocytopenia with susceptibility to infections, MONDO:0013607
Tags
Green List (high evidence)
ITGA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MONDO:0013881
  • Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, OMIM:614748
Tags
Green List (high evidence)
LRBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
  • combined immunodeficiency due to LRBA deficiency, MONDO:0013863
Tags
Green List (high evidence)
MARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MONDO:0014206
  • Interstitial lung and liver disease, OMIM:615486
Tags
  • new-gene-name
Green List (high evidence)
NAF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MONDO:0957261
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, OMIM:620365
Tags
Green List (high evidence)
NKX2-1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
  • NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520
Tags
Green List (high evidence)
OAS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042
  • pulmonary alveolar proteinosis with hypogammaglobulinemia, MONDO:0020840
Tags
Green List (high evidence)
PARN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4, MONDO:0014612
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4, OMIM:616371
Tags
Green List (high evidence)
PSMB4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • proteasome-associated autoinflammatory syndrome 3, MONDO:0054699
  • ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Tags
Green List (high evidence)
PSMB8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • proteasome-associated autoinflammatory syndrome 1, MONDO:0054698
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Tags
Green List (high evidence)
PSMB9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • proteasome-associated autoinflammatory syndrome 6, MONDO:0968983
  • Proteasome-associated autoinflammatory syndrome 6, OMIM:620796
Tags
Green List (high evidence)
RTEL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373
  • pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613
Tags
Green List (high evidence)
SFTPA1
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Interstitial lung disease 1, OMIM:619611
  • interstitial lung disease 1, MONDO:0030608
Tags
Green List (high evidence)
SFTPA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • interstitial lung disease 2, MONDO:0800497
  • Interstitial lung disease 2, OMIM:178500
Tags
Green List (high evidence)
SFTPB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120
  • surfactant metabolism dysfunction, pulmonary, 1, MONDO:0009929
Tags
Green List (high evidence)
SFTPC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913
  • SFTPC-related interstitial lung disease, MONDO:0018603
  • surfactant metabolism dysfunction, pulmonary, 2, MONDO:0024465
Tags
Green List (high evidence)
SLC34A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pulmonary alveolar microlithiasis, OMIM:265100
  • pulmonary alveolar microlithiasis, MONDO:0009928
Tags
Green List (high evidence)
SLC7A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lysinuric protein intolerance, OMIM:222700
  • lysinuric protein intolerance, MONDO:0009109
Tags
Green List (high evidence)
STAT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162
  • autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599
Tags
Green List (high evidence)
STAT5B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590
  • growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MONDO:0100211
Tags
Green List (high evidence)
TBX4
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • autosomal recessive amelia, MONDO:0011054
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
  • Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360
  • congenital alveolar dysplasia due to TBX4, MONDO:0100097
Tags
Green List (high evidence)
TERC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • dyskeratosis congenita, autosomal dominant 1, MONDO:0007485
  • Dyskeratosis congenita, autosomal dominant 1, OMIM:127550
  • pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743
Tags
  • locus-type-rna-long-non-coding
Green List (high evidence)
TERT
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742
  • Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
  • Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
  • dyskeratosis congenita, autosomal dominant 2, MONDO:0013521
  • pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878
Tags
Green List (high evidence)
TINF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3, OMIM:613990
Tags
Green List (high evidence)
TMEM173
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • STING-associated vasculopathy with onset in infancy, MONDO:0014405
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
  • new-gene-name
Amber List (moderate evidence)
RAB5B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • interstitial lung disease, MONDO:0015925
Tags

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