Table 1.

Published SPLIS adrenal clinical phenotype (patients 1–37).

Pt no.	SGPL1 pathogenic variant	Ethnicity	Sex	PAI presentation (age in years)	Glucocorticoid deficiency (Y/N)	Mineralocorticoid deficiency (Y/N)		Adrenal findings on imaging	Publication
1	c.7dup, p.S3Kfs*11	Spanish Roma	M	1.6	Y	U		Calcifications	Lovric (3)
2	c.7dup, p.S3Kfs*11	Spanish Roma	F	11	Y	U		U	Lovric (3)
3†	c.7dup, p.S3Kfs*11	Spanish Roma	F	9	Y	N		U	Prasad (4)
4†	c.261+1G	Peruvian	M	0.9	Y	Y		Enlarged, calcifications	Prasad (4)
5†	c.261+1G	Peruvian	F	0.3	Y	Y		Calcifications	Prasad (4)
6	c.395A>G, p.E132G; c.832delA, p.R278Gfs*17	French	F	2	Y	U		U	Lovric (3)
7	c.395A > G, p.E132G; c.832delA, p.R278Gfs*17	French	F	2	Y	U		U	Lovric (3)
8†	c.511A>G, p.N171D	Pakistani	M	0.6	Y	Y		Calcifications	Maharaj (7)
9†	c.518T>A, p.L173Q	Turkish	F	0.17	Y	Y		Calcifications	Menevse (20)
10	c.605C>T, p. S202L; c.1247A>G, p.Y416C	Unknown	M	2	Y	N		U	Zhao (10)
11	c.664C>T, p.R222W	Turkish	F	0.25	Y	U		U	Lovric (3)
12	c.664C>T, p.R222Q	Pakistani	M	6.5	Y	U		U	Lovric (3)
13	c.664C>T, p.R222Q	Pakistani	M	3	Y	U		U	Lovric (3)
14	c.664C>T, p.R222Q	Pakistani	M	2	Y	U		U	Lovric (3)
15†	c.664C>T, p.R222Q	Pakistani	M	0.6	Y	N		U	Prasad (4)
16†	c.664C>T, p.R222Q	Pakistani	M	<1	Y	N		U	Prasad (4)
17†	c.664C>T, p.R222Q	Pakistani	M	<1	Y	N		U	Prasad (4)
18†	c.664C>T, p.R222Q	Saudi	M	1.5	Y	N		U	Prasad (4)
19	c.665G>A, p. R222Q	Saudi	M	3	Y	N		Normal	Settas (17)
20	c.665G>A, p.R222Q	Saudi	M	6	Y	Y		U	Martin (8)
21	c.665G>A: p.R222Q	Saudi/British	M	1	Y	U		U	Alrayes (19)
22	c.868T>c, p.F290L; c.993C<G, p.Y331*	White American	M	1.2	Y		N	Calcification and enlarged	Taylor (9)
23	c.934delC, p. L312Yfs*30	White European	M	0	Y		U	Calcifications	Janecke (2)
24	c.1018C >T, p.R340W	Unknown	F	0.6	Y		Y	U	Linhares (6)
25	c.1018C >T, p.R340W	Unknown	M	0.7	Y		Y	U	Linhares (6)
26†	c.1018C >T, p.R340W	Turkish	M	0.4	Y		Y	Normal	Menevse (20)
27	c.1037G >T, p.S346I	Moroccan	F	NFD	U		U	Calcifications	Lovric (3)
28	c.1037G >T, p.S346I	Moroccan	F	NFD	U		U	Calcifications	Lovric (3)
29†	c.1049A>G, p.D350G	Turkish	F	0.75	Y		Y	Calcifications	Maharaj (21)
30	c.1077del, p.G360Afs*49; c.1058A>G, p. K353R	Unknown	M	0.1	Y		U	Calcifications	Zhao (10)
31	c.1079G>T, p.G360V	Turkish	F	0.4	Y		U	U	Saygili (18)
32	c.1233delC, p.F411Lfs*56	Afghan	M	NFD	U		U	Calcifications	Bamborschke (5)
33	c.1247A >G, p.Y416C	Mixed European	F	0.2	Y		U	U	Lovric (3)
34	c.1513C >T, p.R505*	Arabic	M	NFD	U		U	Calcifications (scan at 6 weeks of life)	Janecke (2)
35	c.1513C >T, p.R505*	Arabic	M	NFD	U		U	Calcifications (antenatal scan at 21 weeks gestation)	Janecke (2)
36	c.1566+2T>C; c.854G>A p.C285Y	Unknown	M	0.1	Y		U	Calcifications	Zhao (10)
37†	c.1633_1635delTTC, p.F545del	Turkish	F	0.5	Y		Y	Normal	Prasad (4)

Patients numbered according to position of SGPL1 pathogenic variant.

^†Patients referred to the QMUL cohort.

N, no; NFD, not formally diagnosed (however adrenal calcifications reported); PAI, primary adrenal insufficiency; U, unknown; Y, yes.