Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr9:35090580-35090581
- GRCh38:
- Chr9:35090583-35090584
| PIGO | P913fs, P496fs | Hyperphosphatasia-intellectual disability syndrome | Likely pathogenic
(Sep 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35091453
- GRCh38:
- Chr9:35091456
| PIGO | R811W | Inborn genetic diseases, Hyperphosphatasia-intellectual disability syndrome, Hyperphosphatasia with intellectual disability syndrome 2
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27114447
- GRCh38:
- Chr1:26787956
| PIGV | | Hyperphosphatasia-intellectual disability syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27124852-27124853
- GRCh38:
- Chr1:26798361-26798362
| PIGV | | Hyperphosphatasia-intellectual disability syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35092073-35092074
- GRCh38:
- Chr9:35092076-35092077
| PIGO | R604fs | Inborn genetic diseases, Hyperphosphatasia-intellectual disability syndrome, not provided,
Hyperphosphatasia with intellectual disability syndrome 2 | Pathogenic/Likely pathogenic
(Sep 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27121547
- GRCh38:
- Chr1:26795056
| PIGV | A341E, A132E, A214E | Inborn genetic diseases, Hyperphosphatasia-intellectual disability syndrome, not provided,
Hyperphosphatasia with intellectual disability syndrome 1 | Pathogenic/Likely pathogenic
(Sep 15, 2023) | criteria provided, multiple submitters, no conflicts |