Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr8:27657214
- GRCh38:
- Chr8:27799697
| ESCO2 | R552* | not provided | Pathogenic/Likely pathogenic
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:27645464
- GRCh38:
- Chr8:27787947
| ESCO2 | Q359P | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, not specified,
Roberts-SC phocomelia syndrome, not provided | Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:27641609
- GRCh38:
- Chr8:27784092
| ESCO2 | | Juberg-Hayward syndrome, not specified, not provided,
Roberts-SC phocomelia syndrome | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:27637706-27637707
- GRCh38:
- Chr8:27780189-27780190
| ESCO2 | R293fs | not provided, Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
| Pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:27634064
- GRCh38:
- Chr8:27776547
| ESCO2 | A80V | Juberg-Hayward syndrome, not specified, not provided,
Roberts-SC phocomelia syndrome | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:27660821
- GRCh38:
- Chr8:27803304
| ESCO2 | | Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome | Pathogenic
(Sep 21, 2021) | criteria provided, single submitter |