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.