De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease

Table 1 Summary of patient phenotypes and characteristics with HSPA1L mutation of interest

Sample ID	HSPA1L mutation	Age at diagnosis (years)	Sex	Disease	Phenotype description	Ethnicity	Surgery	Family history
12 s^a	p.Ser277Leu (c.830C > T)	16	Female	UC	Initially left-sided colitis and proctitis, subsequently, pancolitis	Northern, Eastern European, and Middle-Eastern mixed ancestry	-	-
PR0034^b	p.Glu558Asp (c.1674A > T)	13	Male	CD	Nonstricturing ileocolonic	White British	+	-
PR0142^b	p.Gly77Ser (c.229G > A)	13	Male	UC	Extensive mild to moderate pancolitis; maternal grandmother has UC	Polish	-	+
PR0151^b	p.Ala268Thr (c.802G > A)	13	Female	CD	Panenteric colitis	White British	-	-
PR0156^b	p.Thr267Ile (c.800C > T)	15	Male	CD	Terminal ileitis	White British	-	-
PR0161^b	p.Ala268Thr (c.802G > A)	10	Female	UC	Extensive mild to moderate pancolitis and autoimmune sclerosing cholangitis; sister has UC (Dx age 13 years)	White British	-	+
PR0244^b	p.Leu172del (c.515_517del)	13	Female	IBDU	Mild chronic inactive gastritis	White British	-	-

UC ulcerative colitis, CD Crohn's disease, IBDU inflammatory bowel disease unclassified
^aFrom Family A
^bFrom IBD cohort

ISSN: 1756-994X