Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:166262952
- GRCh38:
- Chr4:165341800
| MSMO1 | G115R, G246R | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | Pathogenic
(Jan 11, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr4:166262947
- GRCh38:
- Chr4:165341795
| MSMO1 | Y244C, Y113C | Inborn genetic diseases | Likely pathogenic
(Sep 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr4:166259918
- GRCh38:
- Chr4:165338766
| MSMO1 | H173Q, H42Q | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | Pathogenic
(Mar 1, 2011) | no assertion criteria provided |