Table 2.

Individuals with established mutations and phenotypic extension diagnosed through exome sequencing

Patient ID	Gene(Chr:position)c.DNA change p.protein change	Coding effect	CADD score	CDPred score	GnomAD	ClinPred Score	Age at diagnosis (y):Sex	Phenotype (MIM#)
S.16	CYP27A1(2:219 678 909)NM_000784.3:c1183C>T p.Arg395Cys	Hom.	20.2	−14	0.0002831	0.60	33:F	Childhood-onset facial dysmorphism and skeletal anomalies; juvenile-onset cataracts, cognitive decline, neuropathy. CTX (213700)
F.2.1; F.2.2	DOK7(4:3 494 837_3 494 840)NM_173660.5:c.1124_1127dupTGCC p.Ala378Serfs*30	Hom.	N/A	N/A	0	N/A	56:M;52:M	Juvenile-onset steroid-responsive biceps weakness; milder limb-girdle weakness in brothers CMS10 (254300)
F.1.1; F.1.2	GBE1(3:81 691 938)NM_000158.3:c.986A>C p.Tyr329Ser; GBE1(3:81 542 964_81 542 972)NM_000158.3:c.2053–3358_2053- 3350delinsTGTTTTTTACATTACAGGT p.Tyr686Serfs*3	Comp. Het.	22;N/A	−11;N/A	0.000318;0	0.94;N/A	46:M;44:F	Adult-onset optic neuropathy, deafness, neuropathy, and white matter T2w hyperintensities in brother and sister. APBD (263570)
F.4.1; F.4.2	GSN (9:124 073 097)NM_000177.4:c.640G>T p.Asp214Tyr	Het.	22.2	−10	0	0.99	70:F; 47:M	Late-onset disease; bifacial weakness; lattice corneal dystrophy absent. Amyloidosis (105120)

APBD, adult polyglucosan body disease; N/A, not applicable.