Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:45120349-45120350
- GRCh38:
- Chr1:44654677-44654678
| TMEM53 | | Craniotubular dysplasia, Ikegawa type | Uncertain significance
(Jul 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:45125970-45125972
- GRCh38:
- Chr1:44660298-44660300
| TMEM53 | | TMEM53-related craniotubular dysplasia | Pathogenic
(Jan 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:45120842-45120843
- GRCh38:
- Chr1:44655170-44655171
| TMEM53 | V2fs, V75fs | TMEM53-related craniotubular dysplasia | Pathogenic
(Jan 1, 2020) | criteria provided, single submitter |