Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

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

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 Entities

71 reviewed, 23 green

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

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