ErkrankungGliedergürtel-Muskeldystrophie, autosomal rezessiv; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Gliedergürtel-Muskeldystrophie, autosomal rezessiv, mit 11 Leitlinien-kuratierten bzw. insgesamt 39 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP0042
Anzahl Gene
32
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
47,2 kb (Core-/Basis-Gene)
88,6 kb (Erweitertes Panel)
88,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ANO5 | 2742 | AD und/oder AR | |
CAPN3 | 2466 | AD und/oder AR | |
CRPPA | 1356 | AR | |
DAG1 | 2688 | AR | |
DYSF | 6243 | AR | |
FKRP | 1488 | AR | |
FKTN | 1386 | AR | |
GNE | 2262 | AD und/oder AR | |
PLEC | 13725 | AD und/oder AR | |
POMGNT1 | 1983 | AR | |
POMT1 | 2244 | AR | |
POMT2 | 2253 | AR | |
SGCA | 1164 | AR | |
SGCB | 957 | AR | |
SGCD | 873 | AR | |
SGCG | 876 | AR | |
TCAP | 504 | AD und/oder AR | |
TRIM32 | 1962 | AR | |
BVES | 1083 | AR | |
COL6A1 | 3087 | AD und/oder AR | |
COL6A2 | 3060 | AD und/oder AR | |
COL6A3 | 9534 | AD und/oder AR | |
DES | 1413 | AD und/oder AR | |
DOK7 | 1515 | AR | |
GMPPB | 1164 | AR | |
LAMA2 | 9369 | AR | |
LIMS2 | 1092 | AR | |
LMNA | 1995 | AD und/oder AR und/oder Dig | |
POGLUT1 | 1179 | AD und/oder AR | |
POMGNT2 | 1743 | AR | |
TOR1AIP1 | 1755 | AR | |
TRAPPC11 | 3402 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Heterogene Gruppe von Muskeldystrophien mit proximaler Schwäche im Becken- + Schultergürtel; bei bestimmten Formen kardiale + respiratorische Beeinträchtigung
Synonyme
- 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)
- Facioscapulohumeral muscular dystrophy (LRIF1)
- Muscular dystrophy, AR, with cardiomyopathy + triangular tongue (LIMS2)
- Muscular dystrophy, AR, with rigid spine + distal joint contractures (TORAIP1)
- Muscular dystrophy, limb girdle, "LGMD2T" (DOK7)
- Muscular dystrophy, limb-girdle [panelapp] (RAPSN)
- Muscular dystrophy, limb-girdle, AR 1 (CAPN3)
- Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Muscular dystrophy, limb-girdle, AR 12 (ANO5)
- Muscular dystrophy, limb-girdle, AR 17 (PLEC)
- Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
- Muscular dystrophy, limb-girdle, AR 2 (DYSF)
- Muscular dystrophy, limb-girdle, AR 21 (POGLUT1)
- Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
- Muscular dystrophy, limb-girdle, AR 25 (BVES)
- Muscular dystrophy, limb-girdle, AR 26 (POPDC3)
- Muscular dystrophy, limb-girdle, AR 3 (SGCA)
- Muscular dystrophy, limb-girdle, AR 4 (SGCB)
- Muscular dystrophy, limb-girdle, AR 5 (SGCG)
- Muscular dystrophy, limb-girdle, AR 6 (SGCD)
- Muscular dystrophy, limb-girdle, AR 7 (TCAP)
- Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
- Muscular dystrophy, limb-girdle, type 2W [panelapp] (LIMS2)
- Muscular dystrophy, limb-girdle, type 2X [panelapp] (BVES)
- Muscular dystrophy, limb-girdle, type 2Y [MONDO:0014900] (TOR1AIP)
- 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)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G71.0
Bioinformatik und klinische Interpretation
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