Deutsch
IllnessFukuyama Congenital Muscular Dystrophy, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Fukuyama Congenital Muscular Dystrophy, differential diagnosis, comprising altogether 16 guideline-curated genes according to the clinical signs
ID
FP9438
Number of genes
15
Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
26,2 kb (Extended panel: incl. additional genes)
26,2 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 |
|---|---|---|---|---|
| FKTN | 1386 | NM_001079802.2 | AR | |
| B3GALNT2 | 1503 | NM_152490.5 | AR | |
| B4GAT1 | 1248 | NM_006876.3 | AR | |
| CRPPA | 1356 | NM_001101426.4 | AR | |
| DAG1 | 2688 | NM_004393.6 | AR | |
| FKRP | 1488 | NM_024301.5 | AR | |
| GMPPB | 1164 | NM_013334.4 | AR | |
| LARGE1 | 2271 | NM_004737.7 | AR | |
| LMNA | 1995 | NM_170707.4 | AD, AR | |
| POMGNT1 | 1983 | NM_017739.4 | AR | |
| POMGNT2 | 1743 | NM_032806.6 | AR | |
| POMK | 1053 | NM_032237.5 | AR | |
| POMT1 | 2244 | NM_007171.4 | AR | |
| POMT2 | 2253 | NM_013382.7 | AR | |
| SELENON | 1773 | NM_020451.3 | AR |
Informations about the disease
Synonyms
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Cardiomyopathy, dilated, 1X (FKTN)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Dilated cardiomyopathy (FKTN)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Limb-girdle muscular dystrophy type 2M (FKTN)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Malouf syndrome (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 12 (POMK)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 8 (POMGNT2)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 9 (DAG1)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Walker-Warburg syndrome (FKTN)
- Muscular dystrophy, congenital (FKTN)
- Muscular dystrophy, rigid spine, 1 (SELENON)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 10 (RXYLT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 12 (POMK)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 8 (POMGNT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 9 (DAG1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy [cong. with/-out mental retardation], type B, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy [cong. without mental retardation], type B, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
- Myopathy, congenital, with fiber-type disproportion (SELENON)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined