Table 1:

SPLIS cases reported to date ^*

Case/Family	Mutation	Phenotype	Reference
1	c.7dup; p.Ser3Lysfs*11	ichthiosis, steroid resistant nephrotic syndrome (SRNS)	Lovric et al., 2017.
2	c.7dup; p.Ser3Lysfs*11	cranial nerve, gait problems, SRNS, adrenal insufficiency  (AI), immune deficiency, bony defects	Lovric et al., 2017
3	c.7dup; p.Ser3Lysfs*11	SRNS, ichthyosis, AI, macrosomia, bony abnormalities, scoliosis	Lovric et al., 2017
4	c.7dup; p.Ser3Lysfs*11	SRNS, AI	Prasad et al., 2017
5	c.261+1G>A; p.Ser65Argfs*6	SRNS, AI, neurological symptoms, immune deficiency,  gonadal defects, endocrine defects	Prasad et al., 2017
6	c.261+1G>A; p.Ser65Argfs*6	developmental delay, SRNS, AI, cataracts	Prasad et al., 2017
7	c.395A>G; p.Glu132Gly  c.832delA;p.Arg278Glyfs*17	SRNS, ichthyosis, AI	Lovric et al., 2017
8	c.395A>G; p.Glu132Gly  c.832delA;p.Arg278Glyfs*17	SRNS, ichthyosis, AI	Lovric et al., 2017
9	c.551T>C; p.Ile184Thr  c.1082C>G; p.Ser361*	peripheral neuropathy	Atkinson et al., 2017
10	c.551T>C; p.Ile184Thr  c.1082C>G; p.Ser361*	peripheral neuropathy	Atkinson et al., 2017
11	c.605C>T; p.Ser202Leu  c.946G>A; p.Ala316Thr  (Wash U)	peripheral neuropathy, SRNS, immune deficiency,  endocrine defects, amblyopia, strabismus	Lovric et al., 2017
12	c.664C>T; p.Arg222Trp	developmental defects of the CNS, AI, immune deficiency	Lovric et al., 2017
13	c.664C>T; p.Arg222Trp	CNS, fetal hydrops (FH), died in infancy	Lovric et al., 2017
14	c.664C>T; p.Arg222Trp	(Fetal loss)	Lovric et al., 2017
15	c.664C>T; p.Arg222Trp	(Fetal loss)	Lovric et al., 2017
16	c.665G>A; p.Arg222Gln	SRNS, AI	Lovric et al., 2017
17	c.665G>A; p.Arg222Gln	cranial nerve and peripheral neurological defects, SRNS,  AI, short stature	Lovric et al., 2017
18	c.665G>A; p.Arg222Gln	SRNS, AI	Lovric et al., 2017
19	c.665G>A; p.Arg222Gln	SRNS, AI	Prasad et al., 2017
20	c.665G>A; p.Arg222Gln	SRNS, AI	Prasad et al., 2017
21	c.665G>A; p.Arg222Gln	SRNS, AI	Prasad et al., 2017
22	c.665G>A; p.Arg222Gln	SRNS, AI, immune deficiency	Prasad et al., 2017
23	c.934delC;  p.Leu312Phefs*30	CNS, AI, gonadal defects	Janecke et al., 2017
24	c.1018C>T;  p.Arg340Trp	AI, nephrotic syndrome (NS), dilated heart	Linhares et al., 2017
25	c.1018C>T;  p.Arg340Trp	AI, hyperpigmentation, nephrotic syndrome, anemia	Pezzuti et al., 2014  (this case diagnosed  retrospectively after  diagnosis of a sibling)
26	c.1037G>T; p.Ser346Ile	neurodevelopmental delay, cranial nerve/CNS, ichthyosis,  adrenal calcifications, endocrine defects, malrotation,  dysmorphic features, hypocalcemia, immune deficiency	Lovric et al., 2017
27	c.1037G>T; p.Ser346Ile	CNS, ichthyosis, immune deficiency, neurodevelopmental  delay, deafness	Lovric et al., 2017
28	c.1037G>T; p.Ser346Ile	(Fetal loss with HF)	Lovric et al., 2017
29	c.1037G>T; p.Ser346Ile	(Fetal loss with HF)	Lovric et al., 2017
30	c.1037G>T; p.Ser346Ile	CNS defects, seizures, adrenal calcifications, endocrine  defects, hypocalcemia, immune deficiency	Lovric et al., 2017
31	c.1233delC;  p.Phe411Leufs*56	severe CNS developmental birth defects, adrenal  seizures, adrenal calcificationscalcification, gonadal defects, immune deficiency,  endocrine defects	Bamborschke et al.,2018
32	c.1247A>G; p.Tyr416Cys	CNS, AI, immune deficiency, endocrine defects, dilated  seizures, adrenal calcificationscardiomyopathy	Lovric et al., 2017
33	c.1513C>T; p.Arg505*	CNS, adrenal calcification, gonadal defects	Janecke et al., 2017
34	c.1513C>T; p.Arg505*	CNS, adrenal calcification, gonadal defects	Janecke et al., 2017
35	c.1633_1635delTTC;  p.F545del	Delayed development, SRNS, AI, CNS, sensorineural  seizures, adrenal calcificationsdeafness, immune deficiency	Prasad et al., 2017

^*Note: we are aware of four additional cases of SPLIS. They will be described in a separate report.