Table 1.

Pathogenic variants in patients with GPS from unrelated pedigrees

Patient	Sex	Age band (y)	Pathogenic and likely pathogenic NBEAL2 variants	Identifier
A	Female	30-34	NM_015175.2:c.1928A>T NP_055990.1:p.(Glu643Val)	C.II.31
			NM_015175.2:c.6299C>T NP_055990.1:p.(Pro2100Leu)	20,126
B	Female	30-34	NM_015175.2:c.1928A>T NP_055990.1:p.(Glu643Val)	C.II.4b1
			NM_015175.2:c.6299C>T NP_055990.1:p.(Pro2100Leu)	20,226
C	Male	40-44	NM_015175.2:c.6806C>T NP_055990.1:p.(Ser2269Leu)	D.II.31
			NM_015175.2:c.256A>G NP_055990.1:p.(Ile86Val)	2426
			Splice acceptor variant NM_015175.2:c.6920-1 G>C
			Splice acceptor variant NP_055990.1:p.(Ser2269Ter)
D	Male	40-44	Splice acceptor variant NM_015175.2:c.4485-1G>T NP_055990.1:p.(Phe646del)	2626
E	Female	45-49	NM_015175.2:c.6568del NP_055990.1:p.(Cys2190AlafsTer23)	2526
			NM_015175.2:c.7937T>C
			NP_055990.1:p.(Leu2646Pro)
F	Male	45-50	NM_015175.2:c.3058T>C NP_055990.1:p.(Tyr1020His)	3126
			NM_015175.2:c.7134G>A NP_055990.1:p.(Glu2378 =)
			Splice acceptor variant NM_015175.2:c.2650-1G>A
G	Female	60-65	NM_015175.2:c.4890del	22,126
			NP_055990.1:p.(Arg1631Glyfs*3)
H	Male	19-24	NM_015175.2:c.4501_4503del
			NP_055990.1:p.(Leu1501del)
I	Male	15-20	NM_015175.2:c.5299C>T	P150
			NP_055990.1:p.(Gln1767)
J	Male	13-18	NM_015175.2:c.5299C>T	P350
			NP_055990.1:p.(Gln1767)
K	Male	9-14	NM_015175.2:c.5299C>T	P250
			NP_055990.1:p.(Gln1767)
L	Male	62	NM_015175.2:c.6432delT	Dutch
			NP_055990.1:p.(Phe2144Leufs*23)
			NM_015175.2:c.5497G>A
			NP_055990.1:p.​(Glu1833Lys)
M	Male	62	NM_015175.2:c.6432delT	Dutch
			NP_055990.1:p.(Phe2144Leufs*23)
			NM_015175.2:c.5497G>A
			NP_055990.1:p.​(Glu1833Lys)

Patients A to C, 2 from the same pedigree, have been previously described in Albers et al.¹ Patients I to K, from the same pedigree, have been previously described in Rensing-Ehl et al.⁵⁰ Patients A to G are also included in the study by Sims et al.²⁶