Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:108824456
- GRCh38:
- Chr4:107903300
| CYP2U1-AS1, SGMS2 | I214T, I41T | Calvarial doughnut lesions-bone fragility syndrome | Uncertain significance
(Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:108816880
- GRCh38:
- Chr4:107895724
| CYP2U1-AS1, SGMS2 | | Calvarial doughnut lesions-bone fragility syndrome, not provided | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:108816857
- GRCh38:
- Chr4:107895701
| CYP2U1-AS1, SGMS2 | R50* | Inborn genetic diseases, Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, Calvarial doughnut lesions-bone fragility syndrome,
not provided | Pathogenic/Likely pathogenic
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |