Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:54697144-54697145
- GRCh38:
- Chr19:54193289-54193290
| TSEN34 | L289fs | Pontocerebellar hypoplasia type 2C | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:54695720
- GRCh38:
- Chr19:54191869
| TSEN34 | S131L | Pontoneocerebellar hypoplasia, not provided, Pontocerebellar hypoplasia type 2C,
not specified | Uncertain significance
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:54695796
- GRCh38:
- Chr19:54191945
| TSEN34 | | not provided, Pontocerebellar hypoplasia type 2C | Conflicting interpretations of pathogenicity
(Sep 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:54695387
- GRCh38:
- Chr19:54191536
| TSEN34 | R58W | Pontocerebellar hypoplasia type 2C | Pathogenic
(Sep 1, 2008) | no assertion criteria provided |