IllnessEAST syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion East syndrome
ID
ES5060
Number of genes
1
Accredited laboratory test
Examined sequence length
1,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
KCNJ10 | 1140 | NM_002241.5 | AR |
Informations about the disease
Clinical Comment
Seizures, sensorineural deafness, ataxia, intellectual deficit, electrolyte imbalance (hypokalemia, metabolic alkalosis, hypomagnesemia)
Synonyms
- Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
- Allelic: SeSAME-Syndrom (KCNJ10)
- Epilepsy, ataxia, sensorineural deafness + tubulopathy (KCNJ10)
- Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome (KCNJ10)
- Seizures, sensorineural deafness, ataxia, mental retardation + electrolyte imbalance (KCNJ10)
- Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndr. (KCNJ10)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
G40.4
Bioinformatics and clinical interpretation
No text defined