Deutsch
IllnessDuane[-radial ray] syndrome, differential diagnosis
Summary
Short information
A comprehensive panel for Duane[-radial ray] syndrome, differential diagnosis containing 3 curated core candidate genes and altogether 10 curated genes accord8ing to the clinically suspected diagnosis
ID
DP8642
Number of genes
1
Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
1,4 kb (Extended panel: incl. additional genes)
1,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| TUBB3 | 1353 | NM_006086.4 | AD |
Informations about the disease
Clinical Comment
illness
Synonyms
- Alias: Duane anomaly, isolated
- Alias: Duane retraction syndrome
- Alias: Radiales Fehlbildungssyndrom mit Duane-Retraktionssyndrom
- Alias: Stilling-Turk-Duane syndrome
- Allelic: Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
- Okihiro [Duane-radial ray] syndrome (SALL4)
- Allelic: Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Athabaskan brainstem dysgenesis syndrome (HOXA1)
- Bosley-Salih-Alorainy syndrome (HOXA1)
- Duane retraction syndrome 2 (CHN1)
- Duane-radial ray syndrome 1 (SALL4)
- Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
- Fibrosis of extraocular muscles, congenital, 2 (PHOIX2A)
- Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
- Fibrosis of extraocular muscles, congenital, 3B (KIF21A)
- Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
- IVIC syndrome (SALL4)
- Townes-Brocks branchiootorenal-like syndrome (SALL1)
- Townes-Brocks syndrome 1 (SALL1)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined