IllnessLimb girdle muscular dystrophy, autosomal recessive; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for limb girdle muscular dystrophy, autosomal recessive, comprising 15 guideline-curated and altogether 38 curated genes according to the clinical signs
ID
GP0042
Number of genes
32
Accredited laboratory test
Examined sequence length
45,0 kb (Core-/Core-canditate-Genes)
88,6 kb (Extended panel: incl. additional genes)
88,6 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 |
---|---|---|---|---|
ANO5 | 2742 | NM_213599.3 | AR | |
CAPN3 | 2466 | NM_000070.3 | AD, AR | |
CRPPA | 1356 | NM_001101426.4 | AR | |
DAG1 | 2688 | NM_004393.6 | AR | |
DYSF | 6243 | NM_003494.4 | AR | |
FKRP | 1488 | NM_024301.5 | AR | |
FKTN | 1386 | NM_001079802.2 | AR | |
PLEC | 13725 | NM_000445.5 | AR | |
POMGNT1 | 1983 | NM_017739.4 | AR | |
POMT1 | 2244 | NM_007171.4 | AR | |
POMT2 | 2253 | NM_013382.7 | AR | |
SGCA | 1164 | NM_000023.4 | AR | |
SGCB | 957 | NM_000232.5 | AR | |
SGCD | 873 | NM_000337.6 | AR | |
SGCG | 876 | NM_000231.3 | AR | |
TCAP | 504 | NM_003673.4 | AR | |
TRIM32 | 1962 | NM_012210.4 | AR | |
BVES | 1083 | NM_007073.4 | AR | |
COL6A1 | 3087 | NM_001848.3 | AR | |
COL6A2 | 3060 | NM_001849.4 | AD, AR | |
COL6A3 | 9534 | NM_004369.4 | AR | |
DES | 1413 | NM_001927.4 | AD, AR | |
DOK7 | 1515 | NM_173660.5 | AR | |
GMPPB | 1164 | NM_013334.4 | AR | |
GNE | 2262 | NM_001128227.3 | AR | |
LAMA2 | 9369 | NM_000426.4 | AR | |
LIMS2 | 1092 | NM_001136037.4 | AR | |
LMNA | 1995 | NM_170707.4 | AR | |
POGLUT1 | 1179 | NM_152305.3 | AR | |
POMGNT2 | 1743 | NM_032806.6 | AR | |
TOR1AIP1 | 1755 | NM_001267578.2 | AR | |
TRAPPC11 | 3402 | NM_021942.6 | AR |
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: Bardet-Biedl syndrome 11 (TRIM32)
- Allelic: Cardiomyopathy, dilated, 1G (TTN)
- Allelic: Cardiomyopathy, dilated, 1L (SGCD)
- Allelic: Cardiomyopathy, dilated, 1X (FKTN)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
- Allelic: Dowling-Degos disease 4 (POGLUT1)
- Allelic: Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
- Allelic: Epidermolysis bullosa simplex with pyloric atresia (PLEC)
- Allelic: Epidermolysis bullosa simplex, Ogna type (PLEC)
- Allelic: Fetal akinesia deformation sequence 2 (RAPSN)
- Allelic: Gnathodiaphyseal dysplasia (ANO5)
- Allelic: Miyoshi muscular dystrophy 1 (DYSF)
- Allelic: Miyoshi muscular dystrophy 3 (ANO5)
- Allelic: Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 7 (CRPPA)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with/-out mental retard. type B, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy cong., brain + eye anomalies, type A, 12 (POMK)
- Allelic: Muscular dystrophy-dystroglycanopathy cong., brain + eye anomalies, type A, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy cong., brain + eye anomalies, type A, 8 (POMGNT2)
- Allelic: Muscular dystrophy-dystroglycanopathy with brain + eye anomalies (FKTN)
- Allelic: Muscular dystrophy-dystroglycanopathy without mental retardation (FKTN)
- Allelic: Myopathy, distal, with anterior tibial onset (DYSF)
- Allelic: Myopathy, myofibrillar, 8 (PYROXD1)
- Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Salih myopathy (TTN)
- Allelic: Tibial muscular dystrophy, tardive (TTN)
- Adult-onset limb girdle muscular dystrophy (PYROXD1)
- BVES-related myopathy [new nomenclature] (BVES)
- Facioscapulohumeral muscular dystrophy (LRIF1)
- LIMS2-related myopathy [new nomenclature] (LIMS2)
- Limb-GIrdle Muscular Dystrophy AR1 (CAPN3)
- Limb-GIrdle Muscular Dystrophy AR10 (TTN)
- Limb-GIrdle Muscular Dystrophy AR11 (POMT1)
- Limb-GIrdle Muscular Dystrophy AR12 (ANO5)
- Limb-GIrdle Muscular Dystrophy AR13 (FKTN)
- Limb-GIrdle Muscular Dystrophy AR14 (POMT2)
- Limb-GIrdle Muscular Dystrophy AR15 (POMGNT1)
- Limb-GIrdle Muscular Dystrophy AR16 (DAG1)
- Limb-GIrdle Muscular Dystrophy AR17 (PLEC)
- Limb-GIrdle Muscular Dystrophy AR18 (TRAPPC11)
- Limb-GIrdle Muscular Dystrophy AR19 (GMPPB)
- Limb-GIrdle Muscular Dystrophy AR2 (DYSF)
- Limb-GIrdle Muscular Dystrophy AR20 (CRPPA)
- Limb-GIrdle Muscular Dystrophy AR21 (POGLUT1)
- Limb-GIrdle Muscular Dystrophy AR22 (COL6A1, COL6A2, COL6A3)
- Limb-GIrdle Muscular Dystrophy AR23 (LAMA2)
- Limb-GIrdle Muscular Dystrophy AR24 (POMGNT2)
- Limb-GIrdle Muscular Dystrophy AR3 (SGCA)
- Limb-GIrdle Muscular Dystrophy AR4 (SGCB)
- Limb-GIrdle Muscular Dystrophy AR5 (SGCG)
- Limb-GIrdle Muscular Dystrophy AR6 (SGCD)
- Limb-GIrdle Muscular Dystrophy AR7 (TCAP)
- Limb-GIrdle Muscular Dystrophy AR8 (TRIM32)
- Limb-GIrdle Muscular Dystrophy AR9 (FKRP)
- Muscular dystrophy, AR, with cardiomyopathy + triangular tongue (LIMS2)
- Muscular dystrophy, AR, with rigid spine + distal joint contractures (TORAIP1)
- Muscular dystrophy, limb girdle, "LGMD2T" [old nomenclature] (DOK7)
- Muscular dystrophy, limb-girdle [panelapp] (RAPSN)
- Muscular dystrophy, limb-girdle, AR 1 [old nomenclature] (CAPN3)
- Muscular dystrophy, limb-girdle, AR 10 [old nomenclature] (TTN)
- Muscular dystrophy, limb-girdle, AR 12 [old nomenclature] (ANO5)
- Muscular dystrophy, limb-girdle, AR 17 [old nomenclature] (PLEC)
- Muscular dystrophy, limb-girdle, AR 18 [old nomenclature] (TRAPPC11)
- Muscular dystrophy, limb-girdle, AR 2 [old nomenclature] (DYSF)
- Muscular dystrophy, limb-girdle, AR 21 [old nomenclature] (POGLUT1)
- Muscular dystrophy, limb-girdle, AR 23 [old nomenclature] (LAMA2)
- Muscular dystrophy, limb-girdle, AR 25 [old nomenclature] (BVES)
- Muscular dystrophy, limb-girdle, AR 26 [old nomenclature] (POPDC3)
- Muscular dystrophy, limb-girdle, AR 3 [old nomenclature] (SGCA)
- Muscular dystrophy, limb-girdle, AR 4 [old nomenclature] (SGCB)
- Muscular dystrophy, limb-girdle, AR 5 [old nomenclature] (SGCG)
- Muscular dystrophy, limb-girdle, AR 6 [old nomenclature] (SGCD)
- Muscular dystrophy, limb-girdle, AR 7 [old nomenclature] (TCAP)
- Muscular dystrophy, limb-girdle, AR 8 [old nomenclature] (TRIM32)
- Muscular dystrophy-dystroglycanopathy cong. + impaired intellectual development, type B, 15 (DPM3)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 15 (DPM3)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 8 (POMGNT2)
- Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 12 (POMK)
- Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 7 (CRPPA syn. ISPD)
- Myofibrillar myopathy [new nomenclature] (DES)
- TOR1AIP1-related myopathy [new nomenclature] (TOR1AIP)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G71.0
Bioinformatics and clinical interpretation
No text defined