Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:25158473
- GRCh38:
- Chr4:25156851
| SEPSECS | | Congenital cerebellar hypoplasia, Arthrogryposis multiplex congenita, Kyphosis,
Spinal rigidity, Severe global developmental delay, Cerebral hypoplasia,
Seizure, Pontocerebellar hypoplasia type 2D | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:52896234-52896235
- GRCh38:
- Chr18:55229003-55229004
| TCF4 | A359fs, A441fs, A546fs, A547fs, A552fs, A677fs, A445fs, A504fs, A570fs, A571fs, A575fs, A410fs, A411fs, A500fs, A533fs, A574fs, A581fs, A415fs, A529fs, A550fs, A551fs, A568fs | Pitt-Hopkins syndrome, Cerebral hypoplasia, Global developmental delay
| Pathogenic
(Jun 29, 2014) | criteria provided, multiple submitters, no conflicts |