Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:153297919-153297923
- GRCh38:
- ChrX:154032468-154032472
| MECP2 | E38fs, E50fs | Bulbar palsy, Abnormal synaptic transmission, Progressive neurologic deterioration,
Central apnea, Facial hypertrichosis, Congenital laryngomalacia,
Abnormal muscle fiber morphology, Motor neuron atrophy, Central hypotonia,
Dystonic disorder, Sick sinus syndromeStridor,
...see more | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr19:13414645-13414646
- GRCh38:
- Chr19:13303831-13303832
| CACNA1A | Q680fs, Q681fs | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, CACNA1A-related condition,
not provided, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2
| Pathogenic/Likely pathogenic
(Aug 17, 2023) | criteria provided, multiple submitters, no conflicts |