Table 2.

pLI^a of familial HLH genes

Disease	Gene	Protein	pLI
FHLH1	Unknown	Unknown	–
FHLH2	PRF1	Perforin	0.00
FHLH3	UNC13D	Munc13-4	0.00
FHLH4	STX11	Syntaxin-11	0.02
FHLH5	STXBP2	Munc18-2	0.00
XLP1b	SH2D1A	SAP	0.08
XLP2b	XIAP/BIRC4	XIAP	0.98
Griscelli	RAB27A	RAB27A	0.00
Hermansky–Pudlak	AP3B1	AP-3	1.00
Chediak–Higashi	LYST	LYST	1.00
Phenylketonuria	PAH	Phenylalanine hydroxylase	0.00
HA20	TNFAIP3	A20	1.00

Assembled from the Exome Aggregation Consortium. PAH and TNFAIP3 are included as controls known to be associated with haplosufficiency and haploinsufficiency, respectively.

^aExplanation of pLI available at http://exac.broadinstitute.org/faq and is detailed in Lek et al. (70).

^bX-linked disorder.