Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:43830320
- GRCh38:
- Chr1:43364649
| ELOVL1, MIR6734 | | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | Pathogenic
(Apr 20, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:43830119
- GRCh38:
- Chr1:43364448
| ELOVL1 | S165F, S138F, S84F | not provided | Pathogenic
(Oct 14, 2021) | criteria provided, single submitter |