Table 1.

Table indicating demographics, variant details with American College of Medical Genetics and Genomics classifications predicted by Franklin/Varsome, allele frequencies, and variants found in other genes flagged as potentially causative of the clinical condition in each cohort member

ID	Sex, Age range (years)	DENND5A variant(s)	Predicted ACMG classification	Allele frequency	Other gene variants
1	M, 6–10	p.R698W p.N1017S	VUS VUS	2.78 × 10−5 1.59 × 10−5	CNOT3 (VUS)
2	F, 6–10	c.1453A>G/p.K485E c.2129G>A/p.R710H	LB/VUS LB/VUS	7.08 × 10−4 5.17 × 10−5	-
3	M, 16–20	c.611_612insG/p.K205X	LP	N/A	-
43	F, 6–10	c.1622A>G/p.D541G	VUS	N/A	-
53	F, deceased 6–10	c.3811del/p.Q1271Rfs*67	VUS/P	N/A	-
7	F, 11–15	c.1363T>C/p.S455P c.3733G>A/p.A1245T	VUS LB/VUS	N/A 7.96 × 10−6	PEX1 (P)
8	M, 11–15	c.1453A>G/p.K485E c.3475C>T/p.R1159W	LB/VUS VUS	7.08 × 10−4 9.20 × 10−5	HERC2 (VUS), MYBPC3 (P)
9	F, deceased 0–5	c.950-20_950-17delTTTT c.3233G>A/p.R1078Q	LB LB/VUS	4.06 × 10−5 2.62 × 10−4	TBCK (LB/VUS)
102	F, 11–15	c.2547del/p.K850Sfs*11	P	N/A	-
12	M, 0–5	c.2314C>T/p.R772X c.3013T>A/p.L1005M	P VUS	3.19 × 10−5 N/A	CNV: 697 kb gain 6q25.3
14	M, 0–5	c.2180dupG/p.S728fs*34	P	N/A	-
152	F, 11–15	c.517_518delGA/p.D173Qfs*8	P	N/A	-
162	F, deceased	c.517_518delGA/p.D173Qfs*8	P	N/A	-
18	F, 16–20	c.2283+1G>T c.3018dupG/p.K1007Efs*10	VUS/LP LP	N/A N/A	-
19	M, 6–10	c.407C>G/p.T136R c.2864C>T/p.P955L	VUS VUS	N/A 1.59 × 10−5	CACNA1C (LP/P)
20	M, 0–5	Exon 1-14 dup	VUS	N/A	-
21	M, 16–20	c.1549C>T/p.R517W Exon 1 del	VUS LP	7.96 × 10−6 N/A	-
22	M, 11–15	c.955C>T/p.Q319X	P	N/A	CDH4 (VUS)
23	M, 11–15	c.949+1G>A	LP	N/A	-
25	F, 0–5	c.3605del/p.V1202Afs*52	LP	N/A	-
26	M, 0–5	c.623G>A/p.C208Y	VUS	N/A	-
27	M, 0-5	c.949+1G>A	LP	N/A	-
28	F, 0–5	c.949+1G>A	LP	N/A	-
30	M, 0–5	c.3095G>C/p.Arg1032Thr c.3116C>A/p.Thr1039Asn	VUS VUS	N/A N/A	-

Source data are provided as a Source Data file.