Table 2. HSCR patients with a deleterious variant.
| Patient | HSCR type | Other phenotypical characteristics | Genetic defect |
|---|---|---|---|
| P_000302 | Short | No | NM_002181.3 (IHH):c.151C>A, NM_000168.5 (GLI3):c.2119C>T, NM_001190468.1 (GDNF):c.676_681delGGATGT |
| P_000526 | Short | No | NM_020630 (RET):c.1196C>T |
| P_000479 | Long | No | NM_020630 (RET):c.656-21C>T |
| P_000502 | Short | No | NM_020630 (RET):c.1880_1892del |
| P_002442 | Long | No | NM_020630 (RET):c.2599C>T |
| P_000566 | Short | No | NM_020630 (RET):c.3173A>G |
| P_000544 | Long | No | NM_020630 (RET):c.2690G>A |
| P_000534 | Short | Hypospadias, anorectal malformation type perineal fistula | NM_020630 (RET):c.2906G>A |
| P_000480 | Short | Short stature | NM_013956 (NRG1):c.811A>T |
| P_004502 | Short | Hypertelorism, triangular face, pointy chin, straight eye brows, deepset eyes, small dysmorphic ears, agenesis of corpus callosum, hypospadia, dysmorphic nose | NM_014795 (ZEB2): c.1570del |
| P_000557 | Total colonic | Postaxial polydactyly | NM_020630 (RET):c.C229C>T |
| P_000518 | Short | Facial dysmorphisms, microcephaly, bilateral generalized polymicogyria, developmental delay, short stature, hypotonia, eye anomaly | NM_015634 (KIFBP):c.268C>T |
| P_000486 | Total colonic | No abnormal phenotypedescribed. Normal psychomotor development | NM_001122659 (EDNRB):c.534_535insGGTGCCT |
| P_000570 | Short | Congenital central hypoventilation syndrome | NM_003924 (PHOX2B):c.738_761dup |
| P_000576 | Short | Microcephaly, epicantus folds, upslant eyes, broad nose, synophrys naevus sacralis hyperpigmentosis back and shoulders, abnormal palmar creases | NM_020630 (RET):c.1321A>C,: NM_020630 (RET):c.C1941C>T |
Depicted are the patients with HSCR and a known variant in RET or another causal gene (group 2, n = 15) Listed are the patient identifiers, HSCR classification, a short phenotypical description regarding associated anomalies if applicable, and the genetic defect.