IllnessLimb girdle muscular dystrophy, autosomal dominant; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Limb girdle muscular dystrophy, autosomal dominant, comprising 5 guideline-curated and altogether 23 curated genes according to the clinical signs
ID
GP0041
Number of genes
20
Accredited laboratory test
Examined sequence length
28,6 kb (Core-/Core-canditate-Genes)
97,1 kb (Extended panel: incl. additional genes)
97,1 kb (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 |
---|---|---|---|---|
CAPN3 | 2466 | NM_000070.3 | AD, AR | |
CAV3 | 456 | NM_033337.3 | AD | |
COL6A1 | 3087 | NM_001848.3 | AD, AR | |
COL6A2 | 3060 | NM_001849.4 | AD, AR | |
COL6A3 | 9534 | NM_004369.4 | AD, AR | |
DES | 1413 | NM_001927.4 | AD, AR | |
DNAJB6 | 981 | NM_058246.4 | AD | |
HNRNPDL | 1263 | NM_031372.4 | AD | |
LMNA | 1995 | NM_170707.4 | AD, AR | |
MYOT | 1497 | NM_006790.3 | AD | |
TNPO3 | 2772 | NM_012470.4 | AD | |
BAG3 | 1728 | NM_004281.4 | AD | |
CRYAB | 528 | NM_001885.3 | AD, AR | |
FLNC | 8178 | NM_001458.5 | AD | |
MYH7 | 5808 | NM_000257.4 | AD, AR | |
ORAI1 | 912 | NM_032790.3 | AD | |
STIM1 | 2058 | NM_003156.4 | AD | |
SYNE1 | 26250 | NM_033071.4 | AD, AR | |
SYNE2 | 20658 | NM_182914.3 | AD | |
VCP | 2421 | NM_007126.5 | AD |
Informations about the disease
Clinical Comment
Heterogeneous group of muscular dystrophies with proximal weakness in pelvic + shoulder girdles. Cardiac + respiratory impairment observed in certain forms
Synonyms
- Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Cardiomyopathy, dilated, 1G (TTN)
- Allelic: Cardiomyopathy, dilated, 1HH (BAG3)
- Allelic: Cardiomyopathy, dilated, 1I (DES)
- Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
- Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
- Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
- Allelic: Cataract 16, multiple types (CRYAB)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Creatine phosphokinase, elevated serum (CAV3)
- Allelic: Dystonia 27 (COL6A3)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Immunodeficiency 10 (STIM1)
- Allelic: Immunodeficiency 9 (ORAI1)
- Allelic: King-Denborough syndrome (RYR1)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
- Allelic: Malouf syndrome (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
- Allelic: Muscular dystrophy, congenital (LMNA)
- Allelic: Myopathy, distal, 4 (FLNC)
- Allelic: Myopathy, distal, Tateyama type (CAV3)
- Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
- Allelic: Myosclerosis, congenital (COL6A2)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Salih myopathy (TTN)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
- Allelic: Stormorken syndrome (STIM1)
- Allelic: Tibial muscular dystrophy, tardive (TTN)
- Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
- Central core disease (RYR1)
- Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
- Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
- Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
- Limb-Girdle Muscular Dystrophy [panelapp] (LMNA)
- Limb-girdle muscular dystrophy, LGMD1R (LMNA)
- Muscular dystrophy, limb-girdle, AD 2 (TNPO3)
- Muscular dystrophy, limb-girdle, AD 3 (HNRNPDL)
- Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Muscular dystrophy, limb-girdle, type 1A (MYOT)
- Muscular dystrophy, limb-girdle, type 1C (CAV3)
- Muscular dystrophy, limb-girdle, type 1E (DNAJB6)
- Muscular dystrophy, limb-girdle, type 1G (HNRNPDL)
- Muscular dystrophy, limb-girdle, type 2A (CAPN3)
- Muscular dystrophy, limb-girdle, type 2R (DES)
- Muscular dystrophy-dystroglycanopathy, cong. with impaired intell. development, type B, 15 (DPM3)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 15 (DPM3)
- Myopathy, myofibrillar, 1 (DES)
- Myopathy, myofibrillar, 2 (CRYAB)
- Myopathy, myofibrillar, 5 (FLNC)
- Myopathy, myofibrillar, 6 (BAG3)
- Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Myopathy, tubular aggregate, 1 (STIM1)
- Myopathy, tubular aggregate, 2 (ORAI1)
- Myopathy, vacuolar, with CASQ1 aggregates (CASQ1)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Rippling muscle disease (CAV3)
- Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G71.0
Bioinformatics and clinical interpretation
No text defined