Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:25158473
- GRCh38:
- Chr4:25156851
| SEPSECS | | Pontocerebellar hypoplasia type 2D, Spinal rigidity, Congenital cerebellar hypoplasia,
Severe global developmental delay, Cerebral hypoplasia, Seizure,
Arthrogryposis multiplex congenita, Kyphosis | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179567219
- GRCh38:
- Chr2:178702492
| TTN | H10132R, H9815R, H8888R | Restrictive ventilatory defect, Bilateral talipes equinovarus, Areflexia of lower limbs,
Thoracic kyphoscoliosis, Spinal rigidity | Uncertain significance
(Jun 11, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179442328
- GRCh38:
- Chr2:178577601
| TTN-AS1, TTN | | not provided, Thoracic kyphoscoliosis, Spinal rigidity,
Bilateral talipes equinovarus, Restrictive ventilatory defect, Areflexia of lower limbs
| Uncertain significance
(Jun 11, 2014) | criteria provided, multiple submitters, no conflicts |