IllnessBarth syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Barth syndrome comprising 33 curated genes - including 1 guideline-curated "core" gene - according to the clinical signs
ID
BP4442
Number of genes
23
Accredited laboratory test
Examined sequence length
0,9 kb (Core-/Core-canditate-Genes)
36,4 kb (Extended panel: incl. additional genes)
36,4 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 | Heredity |
---|---|---|---|
TAFAZZIN | 879 | XLR | |
ACTC1 | 1134 | AD | |
AGK | 1269 | AR | |
ATAD3A | 1761 | AD, AR | |
AUH | 1020 | AR | |
CLPB | 2034 | AR | |
DNAJC19 | 351 | AR | |
ELANE | 804 | AD | |
G6PC3 | 1041 | AR | |
HAX1 | 840 | AR | |
HTRA2 | 1377 | AR | |
LDB3 | 852 | AD | |
MIB1 | 3021 | AD | |
MICOS13 | 466 | AR | |
MYBPC3 | 3825 | AD, AR | |
MYH7 | 5808 | AD, AR | |
OPA3 | 540 | AD | |
PRDM16 | 3831 | AD | |
SERAC1 | 1965 | AR | |
TIMM50 | 1455 | AR | |
TMEM70 | 324 | AR | |
TNNT2 | 867 | AD | |
TPM1 | 855 | AD |
Informations about the disease
Synonyms
- Alias: 3-Methylglutaconic aciduria, type II (TAFAZZIN)
- Alias: Barth syndrome (TAFAZZIN)
- Alias: Cardioskeletal myopathy with neutropenia + abnormal mitochondria (TAFAZZIN)
- Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
- Allelic: Atrial septal defect 5 (ACTC1)
- Allelic: Becker muscular dystrophy (DMD)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Duchenne muscular dystrophy (DMD)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Laing distal myopathy (MYH7)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Muscular dystrophy, congenital (LMNA)
- Allelic: Myopathy, myofibrillar, 1 (DES)
- Allelic: Myopathy, myofibrillar, 4 (LDB3)
- Allelic: Myopathy, myosin storage, AD; AR (MYH7)
- Allelic: Optic atrophy 3 with cataract (OPA3)
- Allelic: Parkinson disease 13 (HTRA2)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
- Allelic: Wolff-Parkinson-White syndrome (PRKAG2)
- Allelic_ Cataract 38, AR (AGK)
- 3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (SERAC1)
- 3-methylglutaconic aciduria, type I (AUH)
- 3-methylglutaconic aciduria, type III (OPA3)
- 3-methylglutaconic aciduria, type V (DNAJC19)
- 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLBP)
- 3-methylglutaconic aciduria, type VIII (HTRA2)
- Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff. syndr., neonatal lethal (ATAD3A)
- Cardiomyopathy, dilated, 1A (LMNA)
- Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
- Cardiomyopathy, dilated, 1D (TNNT2)
- Cardiomyopathy, dilated, 1I (DES)
- Cardiomyopathy, dilated, 1LL (PRDM16)
- Cardiomyopathy, dilated, 1MM (MYBPC3)
- Cardiomyopathy, dilated, 1R (ACTC1)
- Cardiomyopathy, dilated, 1S (MYH7)
- Cardiomyopathy, dilated, 1Y (TPM1)
- Cardiomyopathy, dilated, 3B (DMD)
- Cardiomyopathy, familial restrictive, 3 (TNNT2)
- Cardiomyopathy, hypertrophic 6 (PRKAG2)
- Cardiomyopathy, hypertrophic, 1 (MYH7)
- Cardiomyopathy, hypertrophic, 11 (ACTC1)
- Cardiomyopathy, hypertrophic, 2 (TNNT2)
- Cardiomyopathy, hypertrophic, 24 (LDB3)
- Cardiomyopathy, hypertrophic, 3 (TPM1)
- Cardiomyopathy, hypertrophic, 4 (MYBPC3)
- Combined oxidative phosphorylation deficiency 37 (C19orf70)
- Danon disease (LAMP2)
- Dursun syndrome (G6PC)
- Emery-Dreifuss muscular dystrophy 1, XL (EMD)
- Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
- Friedreich ataxia (FXN)
- Friedreich ataxia with retained reflexes (FXN)
- Glycogen storage disease II (GAA)
- Glycogen storage disease of heart, lethal congenital (PRKAG2)
- Harel-Yoon syndrome (ATAD3A)
- Heart-hand syndrome, Slovenian type (LMNA)
- Left ventricular noncompaction 10 (MYBPC3)
- Left ventricular noncompaction 3 (LDB3)
- Left ventricular noncompaction 4 (ACTC1)
- Left ventricular noncompaction 5 (MYH7)
- Left ventricular noncompaction 6 (TNNT2)
- Left ventricular noncompaction 7 (MIB1)
- Left ventricular noncompaction 8 (PRDM16)
- Left ventricular noncompaction 9 (TPM1)
- Malouf syndrome (LMNA)
- Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
- Myotonic dystrophy 1 (DMPK)
- Neutropenia, cyclic (ELANE)
- Neutropenia, severe congenital 1, AD (ELANE)
- Neutropenia, severe congenital 3, AR (HAX1)
- Neutropenia, severe congenital 4, AR (G6PC)
- Sengers syndrome (AGK)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatics and clinical interpretation
No text defined