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. Author manuscript; available in PMC: 2024 Nov 1.
Published in final edited form as: Genet Med. 2023 Jul 5;25(11):100925. doi: 10.1016/j.gim.2023.100925

Table 2.

Strength of PAH-gene relationships for genes implicated in syndromes including PAH.

Gene Gene name Syndromea Original ClinGen curation GCEP Original classification Genetic evidence for PAH Variant type scoredb Experimental evidence for PAH Evidence type scoredc Total score for PAH >3 yrs Classification for PAH
ACVRL1 Activin receptor like 1 HHT Hemostasis/ thrombosis Definitive 12 pLOF, missense 6 F/expression, biochemical, interaction; M/non-human 16 Y 2001 Definitive
ENG Endoglin HHT Hemostasis/ thrombosis Definitive 10.1 pLOF, missense, other 3.5 F/expression, interaction; M/nonhuman 13.6 Y 2003 Definitive
TBX4 T-box transcription factor 4 TBX4 syndrome --- --- 12 pLOF 1 F/expression; FA/patient, non-patient 13 Y 2013 Definitive
a

HHT, hereditary hemorrhagic telangiectasia

b

pLOF, predicted loss of function, including nonsense, frameshift, and canonical splice variants..

c

F, function (relevant expression, biochemical function, protein interaction); FA, functional alteration (in patient or non-patient cells); M, model (human or non-human, cell culture/human or non-human); R, rescue. (human or non-human, cell culture/human or non-human)