Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr5:139494406
- GRCh38:
- Chr5:140114821
| PURA | E214* | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Apnea, Generalized hypotonia,
Limb dystonia | Pathogenic/Likely pathogenic
(Jun 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42489105
- GRCh38:
- Chr19:41984953
| ATP1A3 | A320P, A331P, A333P | Dystonia 12, Delayed speech and language development, Apnea,
Seizure, Hemiplegia, Oculogyric crisis
| Pathogenic/Likely pathogenic
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:44283125
- GRCh38:
- Chr7:44243526
| CAMK2B | P139L | Intellectual disability, autosomal dominant 54, Inborn genetic diseases, Abnormality of the nervous system,
not provided | Pathogenic/Likely pathogenic
(Feb 21, 2023) | criteria provided, multiple submitters, no conflicts |