TABLE 2

Rare variants associated with interstitial lung disease

Phenotype	Gene(s)	Key reference(s)
IPF, DKC	TERT, TERC, TINF2, PARN, NAF1, RTEL1, DKC1	[111]
IPF, lung cancer, CPFE, alveolar proteinosis	SFTPA1, SFTPA2, SFTPC, ABCA3	[49, 50, 52, 56]
Lung brain thyroid syndrome	NKX2.1 (TITF1)	[1, 59]
Hermansky–Pudlak syndrome	HPS1–HSP8, AP3B1	[112]
Alveolar proteinosis	CSF2RA, CSF2RB, GATA2, MARS	[113–115]
Lysinuric protein intolerance	SLC7A7	[116]
Pulmonary alveolar microlithiasis	SLC34A2	[117]
Gaucher's disease	GBA	[118]
Niemann–Pick disease	SMPD1	[119]
Fabry disease	GLA	[120]
STING-associated vasculopathy with onset in infancy	TMEM173, COPA	[121–123]
Poikilodermia lung fibrosis	FAM111B	[124]
Acadian variant of Fanconi syndrome	NDUFAF6	[125]
Prolidase deficiency	PEPD	[126]

IPF: idiopathic pulmonary fibrosis; DKC: dyskeratosis congenita; CPFE: combined pulmonary fibrosis and emphysema; STING: stimulator of interferon genes.