Deutsch
IllnessDiabetes mellitus, neonatal with congenital hypothyreosis
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion neonatal diabetes-congenital hypothyroidism syndrome
ID
HS0270
Number of genes
1
Accredited laboratory test
Examined sequence length
2,4 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 |
|---|---|---|---|---|
| GLIS3 | 2328 | NM_152629.4 | AR |
Informations about the disease
Clinical Comment
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving fibrosis, polykystic kidneys (two sibs); minor facial anomalies; 2 families with incomplete syndrome
Synonyms
- Alias: NDH syndrome (GLIS3)
- Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
- Neonatal diabetes-cong. hypothyroidism, glaucoma-hepatic fibrosis-polycystic kidney syndrome (GLIS3)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined