TABLE 1.
List of newly diagnosed cases due to new gene entry into OMIM.
| Index | Gene | Inheritance | Variant type | Variant | Variant status | Phenotype a | OMIM entry number and date of creation |
|---|---|---|---|---|---|---|---|
| 1 | GEMIN5 | Rec | Comp het | c.3857A>G; p.Tyr1286Cys | Novel | Progressive cerebellar atrophy with severe developmental arrest | #619333; 05/19/2021 |
| c.2510–2A>T | Novel | ||||||
| 2 | STAG2 | Dom | De novo het | c.3724C>T; p.Arg1242* | Novel | Holoprosencephaly | #301043; 04/07/2020 |
| 3 | MED12L | Dom | De novo het | c.1895C>T; p.Ser632Leu | Novel | GDD with FD | #618872; 05/02/2020 |
| 4 | DHX16 | Dom | De novo het | c.2021C>T; p.Thr674Met | Reported | Congenital myopathy | #618733; 01/09/2020 |
| 5 | HK1 | Dom | De novo het | c.1475C>T; p.Thr492Met | Reported | Severe brain atrophy, deep cortex disruption | #618547; 08/20/2019 |
| 6 | ADH5 | Rec | Comp het | c.678delA; p.Asp227fs | Novel | GDD, myelodysplastic syndrome | #619151; 01/13/2021 |
| c.832G>C; p.Ala278Pro | Reported | ||||||
| 7 | SIAH1 | Dom | De novo het | c.613G>C; p.Gly205Arg | Reported | GDD and FD | #619314; 05/06/2021 |
| 8 | MN1 | Dom | De novo het | c.3850delC; p.His1284fs | Novel | CHARGE syndrome | #618774; 02/11/2020 |
a
GDD, global developmental delay; FD, facial dysmorphism; CHARGE, coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities.