Description
This panel will be used for clinical indication 'R421 Pulmonary fibrosis familial' 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 'R421 Pulmonary fibrosis familial'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

3 reviewers

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Boaz Palterer (University of Florence)

    Group: Other
    Workplace: Research lab

27 Entities

27 reviewed, 25 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green Green List (high evidence)
ABCA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921
Tags
Green Green List (high evidence)
ACD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant, OMIM:616553
Tags
Green Green List (high evidence)
AP3B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 2, OMIM:608233
Tags
Green Green List (high evidence)
CSF2RA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770
Tags
  • Pseudoautosomal region 1
Green Green List (high evidence)
CSF2RB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370
Tags
Green Green List (high evidence)
CTC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Tags
Green Green List (high evidence)
DKC1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, X-linked, OMIM:305000
Tags
Green Green List (high evidence)
HPS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 1, OMIM:203300
Tags
Green Green List (high evidence)
HPS4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 4, OMIM:614073
Tags
Green Green List (high evidence)
MARS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Interstitial lung and liver disease, OMIM:615486
Tags
  • new-gene-name
Green Green List (high evidence)
MUC5B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:178500
Tags
  • promoter
Green Green List (high evidence)
NAF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Pulmonary fibrosis-emphysema
Tags
  • gene-checked
Green Green List (high evidence)
NHP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 2, OMIM:613987
Tags
Green Green List (high evidence)
NKX2-1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Tags
Green Green List (high evidence)
NOP10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 1, OMIM:224230
Tags
Green Green List (high evidence)
PARN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Tags
Green Green List (high evidence)
RTEL1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373
Tags
Green 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
Phenotypes
  • Interstitial lung disease 1, OMIM:619611
Tags
Green Green List (high evidence)
SFTPA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Interstitial lung disease 2, OMIM:178500
Tags
Green Green List (high evidence)
SFTPB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120
Tags
Green Green List (high evidence)
SFTPC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913
Tags
Green Green List (high evidence)
TERC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:614743
Tags
Green Green List (high evidence)
TERT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
Tags
Green Green List (high evidence)
TINF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3, OMIM:613990
Tags
Green Green List (high evidence)
ZCCHC8
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674
Tags
Amber Amber List (moderate evidence)
RPA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767
Tags
Red Red List (low evidence)
HCK
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Autoinflammatory disease
  • Cutaneous vasculitis
  • Lung inflammation
  • Lung fibrosis
  • Interstitial lung disease
Tags

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