Table 1

Characteristics of patients diagnosed with monogenic diabetes and details of mutations found for those recruited but diagnosed with monogenic diabetes prior to the study and those diagnosed as a result of the biomarker pathway

ID	Genetic characteristics				Clinical characteristics
ID	Gene	Method	Zygosity	DNA level description	Age at diagnosis (years)	Treatment	Parent with diabetes	BMI	HbA_1c	Age at recruitment (years)	Additional clinical features
Recruited but diagnosed prior to the UNITED study
211	GCK	Sanger	Het	c.97_117dup	3	Diet	Yes	34.0	48	16
523	GCK	Sanger	Het	c.97_117dup	27	Diet	No	51.7	55	43
537	GCK	Sanger	Het	c.683C>T	11	Diet	Yes			13
538	GCK	Sanger	Het	c.683C>T	9	Diet	Yes			11
542	GCK	Sanger	Het	c.184G>A	29	Diet	Yes	38.9	48	39
543	GCK	Sanger	Het	c.184G>A	4	Diet	Yes			4
544	GCK	Sanger	Het	c.184G>A	3	Diet	Yes			5
1155	GCK	Sanger	Het	c.1343G>T	25	Diet	Yes	19.3	50	25
82095	GCK	Sanger	Het	c.1019G>T	9	Diet	Yes	21.9	45	14
535	HNF1A	Sanger	Het	c.379_381del	24	OHA	Yes	25.9	51	47
547	HNF1A	Sanger	Het	c.1748G>A	22	Diet	Yes	24.4	40	30	Low renal threshold
554	HNF1A	Sanger	Het	c.872dup	18	OHA	Yes	30	86	39
566	HNF1A	Sanger	Het	c.872dup	17	OHA	Yes	29.2	51	42	Sulphonylurea sensitivity, low renal threshold
603	HNF1A	Sanger	Het	c.1420C>T	20	OHA	Yes	26.5	56	42	Low renal threshold
617	HNF1A	Sanger	Het	c.779C>T	25	Diet	Yes	25.4	44	26
892	HNF1A	Sanger	Het	c.476G>A	14	Insulin	Yes	30.0	63	40
1370	HNF1A	Sanger	Het	c.872dup	21	Diet	Yes	36.1	83	21
1409	HNF1A	Sanger	Het	c.872dup	21	OHA+Ins	Yes	32.8	95	42	Sulphonylurea sensitivity
80480	HNF1A	Sanger	Het	c.1093_1107+6del	19	OHA		22.9	73	40
82261	HNF1A	Sanger	Het	c.185del	12	OHA+Ins	Yes	23.7	73	25	Low renal threshold
82276	HNF1A	Sanger	Het	c.434C>T	13	Insulin	Yes	23.8	60	27
82301	HNF1A	Sanger	Het	c.1340C>T	20	OHA	Yes	27.4	91	37
82310	HNF1A	Sanger	Het	c.185del	18	OHA	Yes	24.4	48	45	Low renal threshold
82374	HNF1A	Sanger	Het	c.1093_1107+6del	19	OHA	Yes	23.8	83	20	Sulphonylurea sensitivity
82258	HNF4A	Sanger	Het	c.322G>A	28	Insulin	Yes	20.9	60	31
600	HNF1B	Sanger	Het	c.982_986del	20	Insulin	No	23.4	122	35	Renal cysts
82033	HNF1B	Sanger	Het	c.466A>G	17	Insulin	No	25.3	54	35	Genital tract malformations, renal hypoplasia
82006	KCNJ11	Sanger	Het	c.601C>T	0	OHA	No	26.6	33	35	Diagnosed at 12 weeks of age
539	LMNA	Sanger	Het	c.1930C>T	17	OHA+Ins	Yes	24.2	114	49	Lipodystrophy
595	LMNA	Sanger	Het	c.1444C>T	21	OHA+Ins	Yes	25.1	62	34
604	3243		Hp	m.3243A>G	27	Insulin	Yes	26.9	54	36
80541	3243		Hp	m.3243A>G	28	Insulin	Yes	26.4	83	48
82399	3243		Hp	m.3243A>G	29	Insulin	Yes	26.4	56	41	Deafness
540	NEUROD1	Sanger	Het	c.616dup	21	OHA+Ins	Yes	49.8	83	36	Lipodystrophy and necrobiosis
Identified as part of the biomarker pathway
82372	GCK	Sanger	Het	c.1340G>A	18	Diet	No	25.5	46	19
82316	HNF4A	Sanger	Het	c.1064–5_1070del	14	Diet	Yes	32.3	38	33
377	HNF4A	Sanger	Het	c.-12G>A	11	Insulin	Yes	28.4	104	14
80089	HNF1A	Sanger	Het	c.1349dup	30	Insulin	Yes	31.0	72	48
80170	HNF1A	Sanger	Het	c.391C>T	21	Insulin	No	23.5	52	35	Low renal threshold
80173	HNF1A	Sanger	Het	c.495G>C	17	Insulin	Yes	24.5	56	46
82003	HNF1A	Sanger	Het	c.28A>C	26	Diet	Yes	29.8	73	26
82352	HNF1A	Sanger	Het	c.814C>T	13	Insulin	Yes	32.3	91	45
82013	HNF1A	tNGS	Het	c.-258A>G	24	OHA	Yes	39.6	75	43
307	HNF1B	tNGS	Het	c.1-?_1674+?del	29	Insulin	No	22.7	62	31	Asperger syndrome, renal cysts, low fecal elastase, low magnesium
82014	NEUROD1	tNGS	Het	c.616dup	21	OHA	No	35.3	88	31
183	NEUROD1	tNGS	Het	c.616dup	29	Insulin	No	27.1	55	46
82010	3243	tNGS	Hp	m.3243A>G	27	OHA+Ins	Yes	28.6	91	46
82038	PPARG	tNGS	Het	c.1154G>A	22	OHA	No	26.6	53	36	Lipodystrophy, acanthosis
80925	TRMT10A	tNGS	Hom	c.79G>T	23	OHA+Ins	No	33.0	69	28	Microcephaly, learning difficulties, epilepsy
17	WFS1	tNGS	C/Het	c.874C>T & c.877del	20	Insulin	n/k	21.8	42	24	Bilateral optic atrophy, neurogenic bladder, diet treatment, muscle pain on exercise
175	POLD1	Exome	Het	c.1812–1814del	14	OHA	No	18.6	30	21	Total lipodystrophy, sensorineural deafness, mandibular hypoplasia, hypogonadism, undescended testes, severe insulin resistance

References for the genes and further details of the mutations are in Supplementary Table 3.
C/Het, compound heterozygous; Het, heterozygous; Hom, homozygous; Hp, Hp gene deletion; Ins, insulin; OHA, oral hypoglycemic agent; tNGS, targeted next-generation sequencing.