Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:40717955
- GRCh38:
- Chr17:42565937
| COASY | R555H, R584H | Pontocerebellar hypoplasia, type 12 | Pathogenic
(Jun 20, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr17:40716976-40716980
- GRCh38:
- Chr17:42564958-42564962
| COASY | | Pontocerebellar hypoplasia, type 12 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr17:40717738-40717739
- GRCh38:
- Chr17:42565720-42565721
| COASY | S517fs, S546fs | not provided, Neurodegeneration with brain iron accumulation | Pathogenic/Likely pathogenic
(May 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:40717674
- GRCh38:
- Chr17:42565656
| COASY | | Pontocerebellar hypoplasia, type 12 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr17:40717494-40717495
- GRCh38:
- Chr17:42565476-42565477
| COASY | I469*, I498* | not provided, Neurodegeneration with brain iron accumulation, COASY-related condition,
Inborn genetic diseases, Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6,
Pontocerebellar hypoplasia, type 12 | Conflicting interpretations of pathogenicity
(Apr 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:40716520
- GRCh38:
- Chr17:42564502
| COASY | | Neurodegeneration with brain iron accumulation 6, not specified, Pontocerebellar hypoplasia, type 12
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:40714804
- GRCh38:
- Chr17:42562786
| COASY | S55Y, S84Y | Neurodegeneration with brain iron accumulation 6, Pontocerebellar hypoplasia, type 12, not specified
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |