Table 1 Genes related to familial forms of IPF included in Panel A.

From: A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice

Gene	Inheritance	Phenotype (OMIM)	Category	Gene-disease evidence	References
TERC	AD	Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1	Telomere-related	Strong	[41]
TERT	AD, AR	Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1	Telomere-related	Definite	[41]
TINF2	AD	Dyskeratosis congenita, autosomal dominant 2; Revesz syndrome	Telomere-related	Moderate	[8]
DKC1	XLR	Dyskeratosis congenita, X-linked	Telomere-related	Definite	[7]
RTEL1	AD, AR	Dyskeratosis congenita, autosomal dominant 4, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3	Telomere-related	Strong	[5]
PARN	AD	Dyskeratosis congenita autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4	Telomere-related	Moderate	[5]
NAF1	AD	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	Telomere-related	Strong	[6]
ZCCHC8	AD	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5	Telomere-related	Moderate	[9]
SFTPC	AD	Surfactant metabolism dysfunction, pulmonary, 2	Non-telomere related	Strong	[12]
SFTPA2	AD	Interstitial lung disease 2	Non-telomere related	Strong	[11]
ABCA3	AR	Surfactant metabolism dysfunction, pulmonary, 3	Non-telomere related	Strong	[13]
SFTPA1	AD, AR	Interstitial lung disease 1	Non-telomere related	Strong	[42]
SPDL1	AD	IPF	Non-telomere related	Limited	[27]
KIF15	AD	IPF	Non-telomere related	Limited	[26]

Evidence levels to describe the strength of evidence supporting a gene-disease association were defined following criteria from the ClinGen Gene Curation Working Group. We only included genes whose supporting evidence was Definite, Strong, or Moderate, except for SDPL1 and KIF15 for which there is still limited evidence to support its role in the disease.
AD autosomal dominant, AR autosomal recessive, XLR X-linked recessive, IPF idiopathic pulmonary fibrosis, OMIM Online Mendelian Inheritance in Man.

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Table 1 Genes related to familial forms of IPF included in Panel A.

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