IllnessMuscular dystrophy, facio-scapulo-humeral 2; differential diagnosis FSHD

Summary

Short information

A comprehensive curated panel for the differential diagnosis of Muscular dystrophy, facio-scapulo-humeral 2; differential diagnosis FSHD, comprising 7 genes (2 core genes)

DP0712

Number of loci

Loci type	Count
Gen	7

Accredited laboratory test

Examined sequence length

8,6 kb (Core-/Core-canditate-Genes)
116,5 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
DNMT3B	2562	602900	NM_006892.4	AR, digenisch
SMCHD1	6018	614982	NM_015295.3	AD, digenisch
CNBP	534	116955	NM_003418.5	AD
DMPK	1920	605377	NM_001081563.2	AD
GAA	2859	606800	NM_000152.5	AR
GNE	2262	603824	NM_001128227.3	AR
TTN	100272	188840	NM_001267550.2	AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_DP0712

Synonyms

Alias FSHD2
Alias: Facioscapulohumeral dystrophy - FSHD
Alias: Facioscapulohumeral muscular dystrophy 2
Alias: Facioscapulohumeral myopathy
Alias: Landouzy-Dejerine muscular dystrophy
Alias: Landouzy-Dejerine myopathy
Allelic: Bosma arhinia microphthalmia syndrome (SMCHD1)
Allelic: Cardiomyopathy, dilated, 1G (TTN)
Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
Allelic: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B)
Allelic: Salih myopathy (TTN)
Allelic: Tibial muscular dystrophy, tardive (TTN)
Facioscapulohumeral muscular dystrophy 4, digenic (DNMT3B)
Fascioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
Glycogen storage disease II (GAA)
Muscular dystrophy, limb-girdle, AR 10 (TTN)
Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
Myotonic dystrophy 1 (DMPK)
Myotonic dystrophy 2 (CNBP)
Nonaka myopathy (GNE)
Sialuria (GNE)

Heredity, heredity patterns etc.

AD
AR
digenisch

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined